ClinVar Miner

List of variants in gene SPINK1 reported as uncertain significance for Hereditary pancreatitis

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Gene type:
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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=) rs35006579 0.00133
NM_003122.5(SPINK1):c.-147A>G rs779832256 0.00075
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln) rs141634296 0.00055
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=) rs147454311 0.00048
NM_001379610.1(SPINK1):c.198A>C (p.Lys66Asn) rs143014431 0.00034
NM_001379610.1(SPINK1):c.-43G>A rs185818957 0.00022
NM_001379610.1(SPINK1):c.-53C>T rs367798627 0.00019
NM_001379610.1(SPINK1):c.87+26T>C rs200296519 0.00017
NM_003122.5(SPINK1):c.-142T>C rs755968566 0.00016
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00012
NM_001379610.1(SPINK1):c.208T>A (p.Ser70Thr) rs373011963 0.00006
NM_001379610.1(SPINK1):c.126A>G (p.Ile42Met) rs370266754 0.00004
NM_001379610.1(SPINK1):c.203A>G (p.Gln68Arg) rs760077990 0.00004
NM_001379610.1(SPINK1):c.*27G>T rs368871387 0.00003
NM_001379610.1(SPINK1):c.*48C>T rs763350070 0.00002
NM_001379610.1(SPINK1):c.109A>C (p.Asn37His) rs761739859 0.00001
NM_001379610.1(SPINK1):c.136G>C (p.Val46Leu) rs772387015 0.00001
NM_001379610.1(SPINK1):c.14G>A (p.Gly5Asp) rs759869911 0.00001
NM_001379610.1(SPINK1):c.175G>A (p.Val59Met) rs781162491 0.00001
NM_001379610.1(SPINK1):c.190A>G (p.Asn64Asp) rs1261616345 0.00001
NM_001379610.1(SPINK1):c.193C>T (p.Arg65Trp) rs536203389 0.00001
NM_001379610.1(SPINK1):c.199C>T (p.Arg67Cys) rs515726208 0.00001
NM_001379610.1(SPINK1):c.206C>T (p.Thr69Ile) rs576564400 0.00001
NM_001379610.1(SPINK1):c.224A>T (p.Lys75Ile) rs1163281900 0.00001
NM_001379610.1(SPINK1):c.38C>T (p.Ala13Val) rs770387107 0.00001
NM_001379610.1(SPINK1):c.82A>G (p.Arg28Gly) rs375368064 0.00001
NM_001379610.1(SPINK1):c.8T>C (p.Val3Ala) rs768306142 0.00001
NC_000005.9:g.(?_147204204)_(147211355_?)dup
NC_000005.9:g.(?_147204224)_(147211355_?)dup
NM_001379610.1(SPINK1):c.*77del rs886060089
NM_001379610.1(SPINK1):c.105A>T (p.Glu35Asp)
NM_001379610.1(SPINK1):c.107T>C (p.Leu36Pro)
NM_001379610.1(SPINK1):c.110A>T (p.Asn37Ile) rs200142833
NM_001379610.1(SPINK1):c.127T>C (p.Tyr43His) rs2127133850
NM_001379610.1(SPINK1):c.128A>G (p.Tyr43Cys) rs1561605311
NM_001379610.1(SPINK1):c.129_131dup (p.Asp44dup) rs878854607
NM_001379610.1(SPINK1):c.133C>A (p.Pro45Thr)
NM_001379610.1(SPINK1):c.137T>A (p.Val46Asp) rs1379675813
NM_001379610.1(SPINK1):c.155A>G (p.Asn52Ser)
NM_001379610.1(SPINK1):c.157A>G (p.Thr53Ala)
NM_001379610.1(SPINK1):c.168T>A (p.Asn56Lys) rs1756441667
NM_001379610.1(SPINK1):c.16A>T (p.Ile6Phe)
NM_001379610.1(SPINK1):c.170A>G (p.Glu57Gly)
NM_001379610.1(SPINK1):c.172T>C (p.Cys58Arg)
NM_001379610.1(SPINK1):c.182del (p.Cys61fs)
NM_001379610.1(SPINK1):c.188A>G (p.Glu63Gly) rs1223176202
NM_001379610.1(SPINK1):c.19T>A (p.Phe7Ile)
NM_001379610.1(SPINK1):c.200G>T (p.Arg67Leu)
NM_001379610.1(SPINK1):c.212T>A (p.Ile71Asn)
NM_001379610.1(SPINK1):c.215T>C (p.Leu72Pro) rs749558779
NM_001379610.1(SPINK1):c.217A>T (p.Ile73Phe) rs982462613
NM_001379610.1(SPINK1):c.218T>C (p.Ile73Thr)
NM_001379610.1(SPINK1):c.227C>G (p.Ser76Cys)
NM_001379610.1(SPINK1):c.229G>C (p.Gly77Arg)
NM_001379610.1(SPINK1):c.232C>T (p.Pro78Ser)
NM_001379610.1(SPINK1):c.235T>G (p.Cys79Gly)
NM_001379610.1(SPINK1):c.236G>A (p.Cys79Tyr)
NM_001379610.1(SPINK1):c.237C>A (p.Cys79Ter)
NM_001379610.1(SPINK1):c.23T>C (p.Leu8Pro)
NM_001379610.1(SPINK1):c.25C>G (p.Leu9Val)
NM_001379610.1(SPINK1):c.26T>C (p.Leu9Pro)
NM_001379610.1(SPINK1):c.29G>A (p.Ser10Asn)
NM_001379610.1(SPINK1):c.30T>A (p.Ser10Arg)
NM_001379610.1(SPINK1):c.32C>T (p.Ala11Val)
NM_001379610.1(SPINK1):c.36_38delinsCGT (p.Leu12_Ala13delinsPheVal)
NM_001379610.1(SPINK1):c.40C>G (p.Leu14Val)
NM_001379610.1(SPINK1):c.47G>T (p.Ser16Ile)
NM_001379610.1(SPINK1):c.52T>C (p.Ser18Pro)
NM_001379610.1(SPINK1):c.55+5G>A rs879076423
NM_001379610.1(SPINK1):c.56G>A (p.Gly19Asp)
NM_001379610.1(SPINK1):c.56G>C (p.Gly19Ala)
NM_001379610.1(SPINK1):c.65G>C (p.Gly22Ala)
NM_001379610.1(SPINK1):c.68C>T (p.Ala23Val)
NM_001379610.1(SPINK1):c.71A>C (p.Asp24Ala)
NM_001379610.1(SPINK1):c.7G>A (p.Val3Ile)
NM_001379610.1(SPINK1):c.80G>A (p.Gly27Glu) rs769727763
NM_001379610.1(SPINK1):c.83G>A (p.Arg28Lys)
NM_001379610.1(SPINK1):c.84A>T (p.Arg28Ser)
NM_001379610.1(SPINK1):c.87+6G>C rs1554089890
NM_001379610.1(SPINK1):c.92A>T (p.Lys31Ile)
NM_003122.5(SPINK1):c.-108G>T rs954248964
Single allele

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