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Remove clinvar duplicate variant
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bpblanken committed Nov 27, 2024
1 parent 680779d commit 9067e4d
Showing 1 changed file with 0 additions and 1 deletion.
1 change: 0 additions & 1 deletion v03_pipeline/var/test/reference_datasets/raw/clinvar.vcf
Original file line number Diff line number Diff line change
Expand Up @@ -51,5 +51,4 @@
1 925946 9 C G . . ALLELEID=1983057;CLNDISDB=MedGen:C3661900;CLNDN=not_provided;CLNHGVS=NC_000001.11:g.925946C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SAMD11:148398;MC=SO:0001583|missense_variant;ORIGIN=1
1 925952 10 G A . . ALLELEID=1003021;CLNDISDB=MedGen:C3661900;CLNDN=not_provided;CLNHGVS=NC_000001.11:g.925952G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SAMD11:148398;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1640863258
1 925956 11 C T . . ALLELEID=1632777;CLNDISDB=MedGen:C3661900;CLNDN=not_provided;CLNHGVS=NC_000001.11:g.925956C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SAMD11:148398;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1342334044
1 925956 11 C T . . ALLELEID=1632777;CLNDISDB=MedGen:C3661900;CLNDN=not_provided;CLNHGVS=NC_000001.11:g.925956C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SAMD11:148398;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1342334044
MT 13112 693521 T C . . ALLELEID=680411;CLNDISDB=MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506;CLNDN=Leigh_syndrome;CLNHGVS=NC_012920.1:m.13112T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MT-ND5:4540;ORIGIN=1;RS=1603224043

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