ClinVar Miner

List of variants in gene SPINK5 reported as pathogenic

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Gene type:
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Total variants: 37
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HGVS dbSNP
NM_006846.3(SPINK5):c.1048C>T (p.Arg350Ter) rs373463881
NM_006846.3(SPINK5):c.1089T>G (p.Tyr363Ter)
NM_006846.3(SPINK5):c.1302+4A>T rs201269335
NM_006846.3(SPINK5):c.136C>T (p.Gln46Ter) rs886039547
NM_006846.3(SPINK5):c.1431-12G>A rs368134354
NM_006846.3(SPINK5):c.1437del (p.Glu480fs) rs1554104853
NM_006846.3(SPINK5):c.1530C>A (p.Cys510Ter) rs1554105045
NM_006846.3(SPINK5):c.1615_1619del (p.Glu539fs) rs1554105205
NM_006846.3(SPINK5):c.1816_1820+21delinsCT rs1561695740
NM_006846.3(SPINK5):c.1888-1G>A
NM_006846.3(SPINK5):c.1915_1916del (p.Leu639fs)
NM_006846.3(SPINK5):c.2215C>T (p.Gln739Ter) rs766028970
NM_006846.3(SPINK5):c.2240+1G>A rs775341740
NM_006846.3(SPINK5):c.2264dup (p.Asn755fs) rs748978134
NM_006846.3(SPINK5):c.2326del (p.Glu776fs) rs1131691815
NM_006846.3(SPINK5):c.2368C>T (p.Arg790Ter) rs121908387
NM_006846.3(SPINK5):c.2467A>T (p.Lys823Ter) rs886041508
NM_006846.3(SPINK5):c.2468del (p.Lys823fs) rs565782662
NM_006846.3(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.3(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591
NM_006846.3(SPINK5):c.2579del (p.Lys860fs)
NM_006846.3(SPINK5):c.2622T>A (p.Tyr874Ter) rs1057520643
NM_006846.3(SPINK5):c.2667-1G>A rs1057524476
NM_006846.3(SPINK5):c.283-2A>T rs587777749
NM_006846.3(SPINK5):c.3018T>A (p.Cys1006Ter) rs766978225
NM_006846.3(SPINK5):c.354_357del (p.Cys119fs) rs1561680487
NM_006846.3(SPINK5):c.355_371delinsGACAACATATGACAACAGATGAC (p.Cys119_Lys124delinsAspAsnIleTer)
NM_006846.3(SPINK5):c.374del (p.Thr125fs)
NM_006846.3(SPINK5):c.389_392dup (p.Leu132fs) rs756874525
NM_006846.3(SPINK5):c.649C>T (p.Arg217Ter) rs367958902
NM_006846.3(SPINK5):c.652C>T (p.Arg218Ter) rs199757347
NM_006846.3(SPINK5):c.690del (p.Lys230fs) rs1561684604
NM_006846.3(SPINK5):c.81+2T>A rs1131691490
NM_006846.3(SPINK5):c.850del (p.Glu284fs)
NM_006846.3(SPINK5):c.882+2T>C rs1057518161
NM_006846.3(SPINK5):c.891C>T (p.Cys297=) rs752941297
NM_006846.3(SPINK5):c.995del (p.Met332fs) rs1561686960

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