ClinVar Miner

List of variants in gene SPINK5 reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_006846.3(SPINK5):c.1048C>T (p.Arg350Ter) rs373463881
NM_006846.3(SPINK5):c.1302+4A>T rs201269335
NM_006846.3(SPINK5):c.136C>T (p.Gln46Ter) rs886039547
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.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.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.2622T>A (p.Tyr874Ter) rs1057520643
NM_006846.3(SPINK5):c.2667-1G>A rs1057524476
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.81+2T>A rs1131691490
NM_006846.3(SPINK5):c.882+2T>C rs1057518161

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