ClinVar Miner

List of variants in gene PRSS56 reported as pathogenic by OMIM

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001195129.2(PRSS56):c.1795C>G (p.Pro599Ala) rs61744404 0.04318
NM_001195129.2(PRSS56):c.904G>T (p.Val302Phe) rs74703359 0.00131
NM_001195129.2(PRSS56):c.1555G>A (p.Gly519Arg) rs730882162 0.00002
NM_001195129.2(PRSS56):c.1183T>C (p.Cys395Arg) rs730882161 0.00001
NM_001195129.2(PRSS56):c.958G>A (p.Gly320Arg) rs730882158 0.00001
NM_001195129.2(PRSS56):c.1066dup (p.Gln356fs) rs730882064
NM_001195129.2(PRSS56):c.526C>G (p.Arg176Gly) rs387907096
NM_001195129.2(PRSS56):c.709G>A (p.Gly237Arg) rs730882160
NM_001195129.2(PRSS56):c.833dup (p.Val279fs) rs730882159
NM_001195129.2(PRSS56):c.926G>C (p.Trp309Ser) rs387907095

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