ClinVar Miner

List of variants reported as uncertain significance for peripheral vascular disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.687C>T (p.Ala229=) rs376919650 0.00042
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp) rs145635235 0.00038
NM_001114753.3(ENG):c.219+23G>A rs200726108 0.00037
NM_001114753.3(ENG):c.1447G>A (p.Val483Ile) rs141330288 0.00034
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp) rs200372420 0.00014
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) rs150038846 0.00009
NM_001114753.3(ENG):c.1852+42C>T rs779974705 0.00006
NM_016204.4(GDF2):c.716C>T (p.Thr239Met) rs782560993 0.00004
NM_001114753.3(ENG):c.686C>A (p.Ala229Asp) rs971190119 0.00002
NM_000020.3(ACVRL1):c.-5-59C>T rs563686436 0.00001
NM_000020.3(ACVRL1):c.1064A>C (p.His355Pro) rs371005117 0.00001
NM_000020.3(ACVRL1):c.139C>T (p.Arg47Trp) rs768072967 0.00001
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066 0.00001
NM_001114753.3(ENG):c.1970T>C (p.Met657Thr) rs768873662 0.00001
NM_001114753.3(ENG):c.633C>T (p.Gly211=) rs928192105 0.00001
NM_001114753.3(ENG):c.943G>A (p.Val315Met) rs763508329 0.00001
NM_000020.3(ACVRL1):c.1111G>T (p.Gly371Cys) rs2139076199
NM_000020.3(ACVRL1):c.1124A>G (p.Tyr375Cys) rs1085307416
NM_000020.3(ACVRL1):c.1211T>A (p.Val404Glu)
NM_000020.3(ACVRL1):c.1377+4A>T rs1940909579
NM_000020.3(ACVRL1):c.1378-297T>A
NM_000020.3(ACVRL1):c.1432G>C (p.Ala478Pro) rs1295923763
NM_000020.3(ACVRL1):c.615G>A (p.Val205=) rs1940766632
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.3(ACVRL1):c.815A>G (p.Gln272Arg)
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro) rs1940810597
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly) rs751787590
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.1429-13C>G
NM_001114753.3(ENG):c.1429-8C>G rs376169815
NM_001114753.3(ENG):c.1643G>A (p.Ser548Asn)
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg) rs1830302008
NM_001114753.3(ENG):c.1883C>T (p.Ala628Val)
NM_001114753.3(ENG):c.221G>C (p.Gly74Ala)
NM_001114753.3(ENG):c.501C>A (p.Ser167Arg) rs1830619812
NM_001114753.3(ENG):c.67+3A>G
NM_001114753.3(ENG):c.67+6_67+14del rs2131936455
NM_001114753.3(ENG):c.68-4A>G rs1564462843
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) rs1588582060
NM_001114753.3(ENG):c.799_804del (p.His267_Asn268del) rs1588581812
NM_016204.4(GDF2):c.-19G>A
NM_016204.4(GDF2):c.395T>C (p.Ile132Thr)
NM_016204.4(GDF2):c.455T>A (p.Leu152His) rs2061098935

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