ClinVar Miner

List of variants reported as pathogenic for peripheral vascular disease by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248 0.00001
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter) rs1085307429
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln) rs863223414
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.3(ACVRL1):c.475G>T (p.Glu159Ter) rs1940756257
NM_000020.3(ACVRL1):c.526-7C>G rs772776468
NM_000020.3(ACVRL1):c.872_873del (p.Arg291fs) rs1592224087
NM_001114753.3(ENG):c.1429-1G>A rs2131876244
NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter) rs1057521648
NM_001114753.3(ENG):c.1614_1615del (p.Val539fs) rs2131875686
NM_001114753.3(ENG):c.360+1G>A rs886039505
NM_001114753.3(ENG):c.523G>A (p.Ala175Thr) rs1588583488
NM_001114753.3(ENG):c.774del (p.Pro257_Tyr258insTer) rs2539074028
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter) rs1554810215
NM_001114753.3(ENG):c.903_904dup (p.Glu302fs) rs1554810177
NM_001114753.3(ENG):c.934del (p.Ala312fs) rs2131886908
NM_001114753.3(ENG):c.983_984delinsAG (p.Ser328Ter) rs1588581338

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