ClinVar Miner

List of variants in gene SPINK5 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_006846.4(SPINK5):c.2260A>T (p.Lys754Ter) rs750789505 0.00004
NM_006846.4(SPINK5):c.389_392dup (p.Leu132fs) rs756874525 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_006846.4(SPINK5):c.1048C>T (p.Arg350Ter) rs373463881 0.00003
NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter) rs777436361 0.00003
NM_006846.4(SPINK5):c.2989C>T (p.Arg997Ter) rs192473445 0.00003
NM_006846.4(SPINK5):c.1302+4A>T rs201269335 0.00002
NM_006846.4(SPINK5):c.1888-1G>A rs759255682 0.00002
NM_006846.4(SPINK5):c.2758C>T (p.Arg920Ter) rs776293648 0.00002
NM_006846.4(SPINK5):c.3018T>A (p.Cys1006Ter) rs766978225 0.00002
NM_006846.4(SPINK5):c.374del (p.Thr125fs) rs1419297868 0.00002
NM_006846.4(SPINK5):c.649C>T (p.Arg217Ter) rs367958902 0.00002
NM_006846.4(SPINK5):c.81+2T>A rs1131691490 0.00002
NM_006846.4(SPINK5):c.2240+1G>A rs775341740 0.00001
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591 0.00001
NM_006846.4(SPINK5):c.2667-1G>A rs1057524476 0.00001
NM_006846.4(SPINK5):c.410+1G>A rs375224787 0.00001
NM_006846.4(SPINK5):c.67A>T (p.Lys23Ter) rs1482249008 0.00001
NC_000005.9:g.(?_147443360)_(147484583_?)del
NC_000005.9:g.(?_147443608)_(147451803_?)del
NC_000005.9:g.(?_147443608)_(147484583_?)del
NC_000005.9:g.(?_147470708)_(147470811_?)del
NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter) rs924297783
NM_006846.4(SPINK5):c.1012C>T (p.Gln338Ter) rs1394583450
NM_006846.4(SPINK5):c.1089T>G (p.Tyr363Ter) rs752777832
NM_006846.4(SPINK5):c.1233del (p.Glu412fs) rs2113120213
NM_006846.4(SPINK5):c.1242_1246del (p.Lys415fs) rs2113120242
NM_006846.4(SPINK5):c.1339G>T (p.Gly447Ter)
NM_006846.4(SPINK5):c.136C>T (p.Gln46Ter) rs886039547
NM_006846.4(SPINK5):c.1430+1G>T rs1309309448
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_006846.4(SPINK5):c.1437del (p.Glu480fs) rs1554104853
NM_006846.4(SPINK5):c.1530C>A (p.Cys510Ter) rs1554105045
NM_006846.4(SPINK5):c.153del (p.Gln52fs) rs1752706120
NM_006846.4(SPINK5):c.1615_1619del (p.Glu539fs) rs1554105205
NM_006846.4(SPINK5):c.1682A>G (p.Glu561Gly) rs1753847242
NM_006846.4(SPINK5):c.1732C>T (p.Arg578Ter) rs201674667
NM_006846.4(SPINK5):c.1816_1820+21delinsCT rs1561695740
NM_006846.4(SPINK5):c.1825C>T (p.Gln609Ter) rs1366194827
NM_006846.4(SPINK5):c.1915_1916del (p.Leu639fs) rs1581096271
NM_006846.4(SPINK5):c.2038_2039del (p.Lys680fs) rs2113177526
NM_006846.4(SPINK5):c.2038_2041del (p.Lys680fs)
NM_006846.4(SPINK5):c.2039_2049del (p.Lys680fs)
NM_006846.4(SPINK5):c.2098G>T (p.Gly700Ter)
NM_006846.4(SPINK5):c.211G>T (p.Glu71Ter)
NM_006846.4(SPINK5):c.216del (p.Glu73fs)
NM_006846.4(SPINK5):c.2215C>T (p.Gln739Ter) rs766028970
NM_006846.4(SPINK5):c.2264dup (p.Asn755fs) rs748978134
NM_006846.4(SPINK5):c.2326del (p.Glu776fs) rs1131691815
NM_006846.4(SPINK5):c.2368C>T (p.Arg790Ter) rs121908387
NM_006846.4(SPINK5):c.238dup (p.Ala80fs) rs752179828
NM_006846.4(SPINK5):c.2423_2425del (p.Thr808del)
NM_006846.4(SPINK5):c.2467A>T (p.Lys823Ter) rs886041508
NM_006846.4(SPINK5):c.2468del (p.Lys823fs) rs565782662
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.4(SPINK5):c.2471_2474del (p.Lys824fs)
NM_006846.4(SPINK5):c.2472del (p.Glu825fs) rs2113195147
NM_006846.4(SPINK5):c.2483del (p.Asp828fs)
NM_006846.4(SPINK5):c.2579del (p.Lys860fs) rs1362009010
NM_006846.4(SPINK5):c.2611C>T (p.Arg871Ter) rs1340491788
NM_006846.4(SPINK5):c.2622T>A (p.Tyr874Ter) rs1057520643
NM_006846.4(SPINK5):c.2671C>T (p.Arg891Ter) rs749828824
NM_006846.4(SPINK5):c.283-2A>T rs587777749
NM_006846.4(SPINK5):c.2847_2851dup (p.Met951fs)
NM_006846.4(SPINK5):c.2870del (p.Leu957fs)
NM_006846.4(SPINK5):c.2901del (p.Glu968fs) rs1581109809
NM_006846.4(SPINK5):c.2953_2954del (p.Phe985fs) rs1754451124
NM_006846.4(SPINK5):c.316_317del (p.Asp106fs) rs763649250
NM_006846.4(SPINK5):c.354_357del (p.Cys119fs) rs1561680487
NM_006846.4(SPINK5):c.355_371delinsGACAACATATGACAACAGATGAC (p.Cys119_Lys124delinsAspAsnIleTer) rs1581064755
NM_006846.4(SPINK5):c.45C>A (p.Cys15Ter)
NM_006846.4(SPINK5):c.478del (p.Val160fs)
NM_006846.4(SPINK5):c.652C>T (p.Arg218Ter) rs199757347
NM_006846.4(SPINK5):c.666+1G>T
NM_006846.4(SPINK5):c.679G>T (p.Glu227Ter) rs1480221716
NM_006846.4(SPINK5):c.690del (p.Lys230fs) rs1561684604
NM_006846.4(SPINK5):c.691del (p.Gln231fs) rs1753397877
NM_006846.4(SPINK5):c.695_696del (p.Val232fs)
NM_006846.4(SPINK5):c.829_830del (p.Asp277fs)
NM_006846.4(SPINK5):c.850del (p.Glu284fs) rs1581074967
NM_006846.4(SPINK5):c.882+1_882+3del rs750225476
NM_006846.4(SPINK5):c.882+2T>C rs1057518161
NM_006846.4(SPINK5):c.941_956del (p.Glu314fs)
NM_006846.4(SPINK5):c.995del (p.Met332fs) rs1561686960

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