ClinVar Miner

List of variants in gene SERPINA1 reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (961):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000295.5(SERPINA1):c.*1331G>A rs11568814
NM_000295.5(SERPINA1):c.*1555C>T rs56325294
NM_000295.5(SERPINA1):c.*326A>G
NM_000295.5(SERPINA1):c.1000A>G (p.Lys334Glu) rs1444508096
NM_000295.5(SERPINA1):c.1014T>A (p.Asn338Lys) rs371761828
NM_000295.5(SERPINA1):c.1027T>G (p.Ser343Ala) rs1400497428
NM_000295.5(SERPINA1):c.102G>T (p.Lys34Asn) rs864622049
NM_000295.5(SERPINA1):c.1064A>G (p.Lys355Arg) rs864622055
NM_000295.5(SERPINA1):c.1065+10C>T rs56388024
NM_000295.5(SERPINA1):c.1068C>T (p.Ala356=) rs9630
NM_000295.5(SERPINA1):c.1069G>A (p.Val357Met)
NM_000295.5(SERPINA1):c.1093G>T (p.Asp365Tyr) rs143370956
NM_000295.5(SERPINA1):c.1094A>T (p.Asp365Val) rs864622046
NM_000295.5(SERPINA1):c.1095C>T (p.Asp365=) rs201774333
NM_000295.5(SERPINA1):c.1121C>A (p.Ala374Asp) rs1566748077
NM_000295.5(SERPINA1):c.1132G>A (p.Glu378Lys) rs1566747984
NM_000295.5(SERPINA1):c.1136C>A (p.Ala379Asp) rs1291036417
NM_000295.5(SERPINA1):c.1158C>T (p.Pro386=)
NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=) rs766128806
NM_000295.5(SERPINA1):c.1208C>T (p.Thr403Ile) rs778747339
NM_000295.5(SERPINA1):c.171C>T (p.Phe57=) rs150784949
NM_000295.5(SERPINA1):c.180C>G (p.Ser60Arg) rs864622045
NM_000295.5(SERPINA1):c.188G>T (p.Arg63Leu) rs764726147
NM_000295.5(SERPINA1):c.199C>A (p.His67Asn) rs864622050
NM_000295.5(SERPINA1):c.291C>T (p.His97=)
NM_000295.5(SERPINA1):c.297A>C (p.Glu99Asp) rs1566757757
NM_000295.5(SERPINA1):c.336G>A (p.Pro112=) rs753313462
NM_000295.5(SERPINA1):c.356G>T (p.Gly119Val) rs749295615
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=) rs147283849
NM_000295.5(SERPINA1):c.469G>A (p.Asp157Asn)
NM_000295.5(SERPINA1):c.513C>T (p.Phe171=)
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg) rs112030253
NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp) rs112030253
NM_000295.5(SERPINA1):c.51C>T (p.Cys17=) rs143920236
NM_000295.5(SERPINA1):c.538C>G (p.Gln180Glu) rs864622051
NM_000295.5(SERPINA1):c.631T>C (p.Tyr211His) rs864622052
NM_000295.5(SERPINA1):c.654G>T (p.Trp218Cys) rs1445192595
NM_000295.5(SERPINA1):c.664T>C (p.Phe222Leu) rs1555368744
NM_000295.5(SERPINA1):c.707A>G (p.Gln236Arg) rs746531546
NM_000295.5(SERPINA1):c.718G>A (p.Val240Met) rs72552401
NM_000295.5(SERPINA1):c.727C>T (p.Pro243Ser) rs1316729320
NM_000295.5(SERPINA1):c.735G>A (p.Met245Ile) rs864622053
NM_000295.5(SERPINA1):c.737A>C (p.Lys246Thr) rs864622054
NM_000295.5(SERPINA1):c.761A>G (p.Gln254Arg) rs1566753789
NM_000295.5(SERPINA1):c.774G>A (p.Lys258=) rs34112109
NM_000295.5(SERPINA1):c.779C>T (p.Ser260Phe)
NM_000295.5(SERPINA1):c.819C>T (p.Thr273=)
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=) rs1049800
NM_000295.5(SERPINA1):c.878A>G (p.His293Arg) rs1281598461
NM_000295.5(SERPINA1):c.879C>G (p.His293Gln) rs141095970
NM_000295.5(SERPINA1):c.894G>T (p.Lys298Asn) rs957169128
NM_000295.5(SERPINA1):c.899T>G (p.Leu300Arg) rs550592374
NM_000295.5(SERPINA1):c.89A>T (p.Asp30Val) rs864622048
NM_000295.5(SERPINA1):c.907G>C (p.Glu303Gln) rs1802963
NM_000295.5(SERPINA1):c.918-5G>A
NM_000295.5(SERPINA1):c.918-9G>T
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200
NM_000295.5(SERPINA1):c.924C>T (p.Ala308=) rs138611390
NM_000295.5(SERPINA1):c.926G>A (p.Ser309Asn) rs773222881
NM_000295.5(SERPINA1):c.967C>T (p.Leu323=) rs150455534
NM_000295.5(SERPINA1):c.976G>A (p.Val326Ile) rs139964603
NM_001002235.3(SERPINA1):c.-5+1679A>G rs55967149
NM_001002235.3(SERPINA1):c.-5+1694C>T rs55973910
NM_001127701.1(SERPINA1):c.*1703C>T rs877081
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470

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