ClinVar Miner

List of variants in gene SPINK5 reported as pathogenic by OMIM

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Gene type:
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Total variants: 7
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HGVS dbSNP
NM_006846.3(SPINK5):c.1431-12G>A rs368134354
NM_006846.3(SPINK5):c.1816_1820+21delinsCT rs1561695740
NM_006846.3(SPINK5):c.2368C>T (p.Arg790Ter) rs121908387
NM_006846.3(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.3(SPINK5):c.283-2A>T rs587777749
NM_006846.3(SPINK5):c.354_357del (p.Cys119fs) rs1561680487
NM_006846.3(SPINK5):c.995del (p.Met332fs) rs1561686960

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