ClinVar Miner

List of variants in gene SPINK1

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Gene type:
ClinVar version:
Total variants: 215
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HGVS dbSNP gnomAD frequency
NM_001379610.1(SPINK1):c.*32C>T rs11319 0.04721
NM_001379610.1(SPINK1):c.174C>T (p.Cys58=) rs35737774 0.04434
NM_001379610.1(SPINK1):c.-41G>A rs79438751 0.03918
NM_001379610.1(SPINK1):c.194+90A>T rs112569673 0.03151
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe) rs35877720 0.03139
NM_003122.5(SPINK1):c.-164G>C rs74352029 0.03132
NM_001379610.1(SPINK1):c.194+184T>A rs114094661 0.01063
NM_001379610.1(SPINK1):c.*51T>C rs113527737 0.01047
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
NM_001379610.1(SPINK1):c.231G>A (p.Gly77=) rs34809998 0.00827
NM_001379610.1(SPINK1):c.55+122G>A rs76527928 0.00806
NM_001379610.1(SPINK1):c.87+54C>T rs78365498 0.00798
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_001379610.1(SPINK1):c.56-37T>C rs17107318 0.00736
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) rs111966833 0.00389
NM_001379610.1(SPINK1):c.88-23A>T rs199929811 0.00219
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.-22C>T rs190219062 0.00051
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.195-21T>A rs377350168 0.00021
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_003122.5(SPINK1):c.-191-24G>A rs191068215 0.00012
NM_001379610.1(SPINK1):c.192T>C (p.Asn64=) rs765307896 0.00011
NM_001379610.1(SPINK1):c.-15C>T rs148434824 0.00006
NM_001379610.1(SPINK1):c.110A>G (p.Asn37Ser) rs200142833 0.00006
NM_001379610.1(SPINK1):c.208T>A (p.Ser70Thr) rs373011963 0.00006
NM_001379610.1(SPINK1):c.111T>C (p.Asn37=) rs769216699 0.00004
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.56-15C>T rs1172632130 0.00003
NM_001379610.1(SPINK1):c.*48C>T rs763350070 0.00002
NM_001379610.1(SPINK1):c.-14G>A rs373391756 0.00002
NM_001379610.1(SPINK1):c.27del (p.Ser10fs) rs193922659 0.00002
NM_001379610.1(SPINK1):c.*34C>T rs377333227 0.00001
NM_001379610.1(SPINK1):c.-40G>A rs560283989 0.00001
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.177G>A (p.Val59=) rs750670272 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.194+15G>C rs371154048 0.00001
NM_001379610.1(SPINK1):c.194+6T>C rs761201715 0.00001
NM_001379610.1(SPINK1):c.199C>T (p.Arg67Cys) rs515726208 0.00001
NM_001379610.1(SPINK1):c.1A>T (p.Met1Leu) rs369163833 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.55+12A>G rs779623718 0.00001
NM_001379610.1(SPINK1):c.72C>T (p.Asp24=) rs1422602705 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_000005.10:g.(?_147824641)_(147831792_?)del
NC_000005.10:g.(?_147824655)_(147831583_?)del
NC_000005.10:g.(?_147824661)_(147831792_?)del
NC_000005.10:g.147824530C>T rs4151639
NC_000005.9:g.(?_147204204)_(147211355_?)dup
NC_000005.9:g.(?_147204224)_(147211355_?)dup
NM_001379610.1(SPINK1):c.*10_*38del
NM_001379610.1(SPINK1):c.*64del
NM_001379610.1(SPINK1):c.*77del rs886060089
NM_001379610.1(SPINK1):c.-1C>A
NM_001379610.1(SPINK1):c.-42C>T rs181484530
NM_001379610.1(SPINK1):c.103G>T (p.Glu35Ter)
NM_001379610.1(SPINK1):c.105A>G (p.Glu35=)
NM_001379610.1(SPINK1):c.105A>T (p.Glu35Asp)
NM_001379610.1(SPINK1):c.107T>C (p.Leu36Pro)
NM_001379610.1(SPINK1):c.108T>A (p.Leu36=)
NM_001379610.1(SPINK1):c.110A>T (p.Asn37Ile) rs200142833
NM_001379610.1(SPINK1):c.111T>G (p.Asn37Lys)
NM_001379610.1(SPINK1):c.113G>A (p.Gly38Glu)
NM_001379610.1(SPINK1):c.114A>G (p.Gly38=) rs1561605325
NM_001379610.1(SPINK1):c.116G>A (p.Cys39Tyr)
NM_001379610.1(SPINK1):c.117C>T (p.Cys39=)
NM_001379610.1(SPINK1):c.120C>G (p.Thr40=)
NM_001379610.1(SPINK1):c.121A>C (p.Lys41Gln) rs1554089812
NM_001379610.1(SPINK1):c.121A>G (p.Lys41Glu) rs1554089812
NM_001379610.1(SPINK1):c.123G>A (p.Lys41=)
NM_001379610.1(SPINK1):c.125T>C (p.Ile42Thr)
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.132C>T (p.Asp44=)
NM_001379610.1(SPINK1):c.133C>A (p.Pro45Thr)
NM_001379610.1(SPINK1):c.134C>G (p.Pro45Arg)
NM_001379610.1(SPINK1):c.137T>A (p.Val46Asp) rs1379675813
NM_001379610.1(SPINK1):c.139T>C (p.Cys47Arg)
NM_001379610.1(SPINK1):c.144G>A (p.Gly48=)
NM_001379610.1(SPINK1):c.147T>G (p.Thr49=)
NM_001379610.1(SPINK1):c.150T>C (p.Asp50=)
NM_001379610.1(SPINK1):c.150T>G (p.Asp50Glu) rs515726206
NM_001379610.1(SPINK1):c.155A>G (p.Asn52Ser)
NM_001379610.1(SPINK1):c.157A>G (p.Thr53Ala)
NM_001379610.1(SPINK1):c.159T>C (p.Thr53=)
NM_001379610.1(SPINK1):c.159T>G (p.Thr53=)
NM_001379610.1(SPINK1):c.160T>C (p.Tyr54His) rs515726207
NM_001379610.1(SPINK1):c.162T>C (p.Tyr54=)
NM_001379610.1(SPINK1):c.162del (p.Asn56fs)
NM_001379610.1(SPINK1):c.165C>G (p.Pro55=)
NM_001379610.1(SPINK1):c.165C>T (p.Pro55=)
NM_001379610.1(SPINK1):c.165del (p.Asn56fs) rs1756441909
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.173G>A (p.Cys58Tyr)
NM_001379610.1(SPINK1):c.174C>A (p.Cys58Ter)
NM_001379610.1(SPINK1):c.181T>C (p.Cys61Arg)
NM_001379610.1(SPINK1):c.182del (p.Cys61fs)
NM_001379610.1(SPINK1):c.185T>C (p.Phe62Ser)
NM_001379610.1(SPINK1):c.186T>C (p.Phe62=)
NM_001379610.1(SPINK1):c.188A>G (p.Glu63Gly) rs1223176202
NM_001379610.1(SPINK1):c.194+19T>G
NM_001379610.1(SPINK1):c.194+5G>A
NM_001379610.1(SPINK1):c.195-15T>A
NM_001379610.1(SPINK1):c.195-15dup
NM_001379610.1(SPINK1):c.195-70_195-67dup rs554919880
NM_001379610.1(SPINK1):c.195-7A>G rs1554089593
NM_001379610.1(SPINK1):c.198A>G (p.Lys66=)
NM_001379610.1(SPINK1):c.19T>A (p.Phe7Ile)
NM_001379610.1(SPINK1):c.200G>T (p.Arg67Leu)
NM_001379610.1(SPINK1):c.201C>T (p.Arg67=)
NM_001379610.1(SPINK1):c.203A>T (p.Gln68Leu)
NM_001379610.1(SPINK1):c.204G>A (p.Gln68=)
NM_001379610.1(SPINK1):c.210T>C (p.Ser70=)
NM_001379610.1(SPINK1):c.211A>G (p.Ile71Val)
NM_001379610.1(SPINK1):c.212T>A (p.Ile71Asn)
NM_001379610.1(SPINK1):c.215T>C (p.Leu72Pro) rs749558779
NM_001379610.1(SPINK1):c.216C>T (p.Leu72=)
NM_001379610.1(SPINK1):c.217A>T (p.Ile73Phe) rs982462613
NM_001379610.1(SPINK1):c.218T>C (p.Ile73Thr)
NM_001379610.1(SPINK1):c.220C>A (p.Gln74Lys)
NM_001379610.1(SPINK1):c.221A>G (p.Gln74Arg)
NM_001379610.1(SPINK1):c.222A>G (p.Gln74=)
NM_001379610.1(SPINK1):c.226T>G (p.Ser76Ala)
NM_001379610.1(SPINK1):c.227C>G (p.Ser76Cys)
NM_001379610.1(SPINK1):c.229G>C (p.Gly77Arg)
NM_001379610.1(SPINK1):c.231G>C (p.Gly77=)
NM_001379610.1(SPINK1):c.231G>T (p.Gly77=)
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.239G>A (p.Ter80=)
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.26T>G (p.Leu9Arg)
NM_001379610.1(SPINK1):c.29G>A (p.Ser10Asn)
NM_001379610.1(SPINK1):c.2T>C (p.Met1Thr) rs104893938
NM_001379610.1(SPINK1):c.2T>G (p.Met1Arg) rs104893938
NM_001379610.1(SPINK1):c.30T>A (p.Ser10Arg)
NM_001379610.1(SPINK1):c.30T>G (p.Ser10Arg)
NM_001379610.1(SPINK1):c.32C>T (p.Ala11Val)
NM_001379610.1(SPINK1):c.35T>C (p.Leu12Ser)
NM_001379610.1(SPINK1):c.36_38delinsCGT (p.Leu12_Ala13delinsPheVal)
NM_001379610.1(SPINK1):c.39C>T (p.Ala13=)
NM_001379610.1(SPINK1):c.40C>G (p.Leu14Val)
NM_001379610.1(SPINK1):c.41T>C (p.Leu14Pro) rs104893939
NM_001379610.1(SPINK1):c.41T>G (p.Leu14Arg) rs104893939
NM_001379610.1(SPINK1):c.42G>A (p.Leu14=)
NM_001379610.1(SPINK1):c.47G>T (p.Ser16Ile)
NM_001379610.1(SPINK1):c.48T>C (p.Ser16=)
NM_001379610.1(SPINK1):c.51A>G (p.Leu17=)
NM_001379610.1(SPINK1):c.52T>C (p.Ser18Pro)
NM_001379610.1(SPINK1):c.54T>G (p.Ser18=)
NM_001379610.1(SPINK1):c.55+11C>A
NM_001379610.1(SPINK1):c.55+1G>A
NM_001379610.1(SPINK1):c.55+1G>T rs1561606446
NM_001379610.1(SPINK1):c.55+5G>A rs879076423
NM_001379610.1(SPINK1):c.56-19A>G
NM_001379610.1(SPINK1):c.56-91_56-90del
NM_001379610.1(SPINK1):c.56G>A (p.Gly19Asp)
NM_001379610.1(SPINK1):c.56G>C (p.Gly19Ala)
NM_001379610.1(SPINK1):c.56G>T (p.Gly19Val) rs1411503462
NM_001379610.1(SPINK1):c.64G>A (p.Gly22Arg) rs1580942670
NM_001379610.1(SPINK1):c.65G>C (p.Gly22Ala)
NM_001379610.1(SPINK1):c.68C>T (p.Ala23Val)
NM_001379610.1(SPINK1):c.6G>A (p.Lys2=)
NM_001379610.1(SPINK1):c.6G>C (p.Lys2Asn)
NM_001379610.1(SPINK1):c.71A>C (p.Asp24Ala)
NM_001379610.1(SPINK1):c.75C>A (p.Ser25=)
NM_001379610.1(SPINK1):c.75C>G (p.Ser25=)
NM_001379610.1(SPINK1):c.7G>A (p.Val3Ile)
NM_001379610.1(SPINK1):c.7G>C (p.Val3Leu)
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.85G>A (p.Glu29Lys)
NM_001379610.1(SPINK1):c.87+10T>C rs955053963
NM_001379610.1(SPINK1):c.87+18A>G
NM_001379610.1(SPINK1):c.87+1G>A rs1554089895
NM_001379610.1(SPINK1):c.87+6G>C rs1554089890
NM_001379610.1(SPINK1):c.87+7A>G rs1756473313
NM_001379610.1(SPINK1):c.87+7A>T rs1756473313
NM_001379610.1(SPINK1):c.88-10C>T
NM_001379610.1(SPINK1):c.88-11T>A
NM_001379610.1(SPINK1):c.88-20C>A
NM_001379610.1(SPINK1):c.92A>T (p.Lys31Ile)
NM_001379610.1(SPINK1):c.93_101del (p.Lys31_Tyr33del) rs767903021
NM_001379610.1(SPINK1):c.99C>T (p.Tyr33=)
NM_001379610.1(SPINK1):c.9A>C (p.Val3=)
NM_003122.5(SPINK1):c.-108G>T rs954248964
NM_003122.5(SPINK1):c.-191-129_56-932del
NM_003122.5(SPINK1):c.-191-24G>T rs191068215
Single allele

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