ClinVar Miner

List of variants studied for peripheral vascular disease by OMIM

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684 0.00574
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_001365536.1(SCN9A):c.29A>G (p.Gln10Arg) rs267607030 0.00006
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288 0.00001
NM_016204.4(GDF2):c.254C>T (p.Pro85Leu) rs199804679 0.00001
ACVRL1, ARG67TRP
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.3(ACVRL1):c.1113_1114insG (p.Thr372fs) rs387906394
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.1127T>G (p.Met376Arg) rs28936399
NM_000020.3(ACVRL1):c.1193T>A (p.Ile398Asn) rs121909286
NM_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser) rs121909289
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.3(ACVRL1):c.1232G>C (p.Arg411Pro) rs121909284
NM_000020.3(ACVRL1):c.1378-216C>G rs111710113
NM_000020.3(ACVRL1):c.143_147delinsAGCCT (p.Gly48_Ala49delinsGluPro) rs387906392
NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys) rs121909285
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del) rs387906391
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del) rs387906393
NM_001114753.3(ENG):c.-142A>T
NM_001114753.3(ENG):c.1238G>T (p.Gly413Val) rs121918401
NM_001114753.3(ENG):c.1553_1554del (p.Ser518fs) rs2131875838
NM_001114753.3(ENG):c.2T>C (p.Met1Thr) rs267606783
NM_001114753.3(ENG):c.360+1G>A rs886039505
NM_001114753.3(ENG):c.360+4A>G rs1564457752
NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_001114753.3(ENG):c.67+1G>A rs1554813783
NM_001114753.3(ENG):c.831C>G (p.Tyr277Ter) rs121918400
NM_001114753.3(ENG):c.882_920del (p.Thr295_Asn307del) rs2131886961
NM_001365536.1(SCN9A):c.1867G>A (p.Asp623Asn) rs200398202
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr) rs80356474
NM_001365536.1(SCN9A):c.2605C>T (p.Leu869Phe) rs80356476
NM_001365536.1(SCN9A):c.2606T>A (p.Leu869His) rs80356475
NM_001365536.1(SCN9A):c.4378T>G (p.Phe1460Val) rs80356478
NM_001365536.1(SCN9A):c.647T>C (p.Phe216Ser) rs80356469
NM_001365536.1(SCN9A):c.721T>A (p.Ser241Thr) rs80356470
NM_002977.3(SCN9A):c.[2794A>C;2971G>T]
NM_016204.4(GDF2):c.1282T>C (p.Cys428Arg)
NM_016204.4(GDF2):c.203G>T (p.Arg68Leu) rs200330818
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp) rs35129734

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