ClinVar Miner

List of variants reported as likely pathogenic for Hereditary pancreatitis by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_000492.4(CFTR):c.2908+1G>A rs1060503164
NM_001379610.1(SPINK1):c.55+1G>T rs1561606446
NM_001379610.1(SPINK1):c.93_101del (p.Lys31_Tyr33del) rs767903021
NM_002769.5(PRSS1):c.389C>T (p.Thr130Ile) rs193922655
NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg) rs193922656
NM_002769.5(PRSS1):c.415T>A (p.Cys139Ser) rs397507440

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