ClinVar Miner

List of variants reported as likely pathogenic for Hereditary pancreatitis by Mendelics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys) rs397508147 0.00001
NM_001379610.1(SPINK1):c.1A>T (p.Met1Leu) rs369163833 0.00001
NM_000492.4(CFTR):c.1066_1071del (p.Trp356_Ala357del) rs2116684480
NM_000492.4(CFTR):c.3907A>T (p.Asn1303Tyr) rs121909042

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