ClinVar Miner

List of variants reported as likely pathogenic for Hereditary pancreatitis

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00374
NM_007272.3(CTRC):c.640-12G>A rs183053579 0.00194
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00038
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00037
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00035
NM_007272.3(CTRC):c.746C>T (p.Pro249Leu) rs142560329 0.00020
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
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_007272.3(CTRC):c.649G>A (p.Gly217Ser) rs202058123 0.00003
NM_001868.4(CPA1):c.686C>T (p.Thr229Met) rs781815975 0.00002
NM_007272.3(CTRC):c.181G>A (p.Gly61Arg) rs769482036 0.00002
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_001868.4(CPA1):c.829G>A (p.Gly277Ser) rs782790983 0.00001
NM_002769.5(PRSS1):c.415T>A (p.Cys139Ser) rs397507440 0.00001
NM_007272.3(CTRC):c.494-1G>C rs766917452 0.00001
NM_007272.3(CTRC):c.85C>T (p.Arg29Ter) rs747905422 0.00001
NC_000007.13:g.(?_142457132)_(142460891_?)dup
NC_000007.13:g.(?_142457319)_(142460927_?)dup
NC_000007.13:g.(?_142459605)_(142460891_?)dup
NC_000007.13:g.(?_142459615)_(142460871_?)dup
NC_000007.13:g.(?_142459615)_(142460881_?)dup
NC_000007.14:g.(?_142749147)_(142753020_?)dup
NC_000007.14:g.(?_142749475)_(142753030_?)dup
NM_000492.4(CFTR):c.1066_1071del (p.Trp356_Ala357del) rs2116684480
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn) rs397508198
NM_000492.4(CFTR):c.2908+1G>A rs1060503164
NM_000492.4(CFTR):c.3907A>T (p.Asn1303Tyr) rs121909042
NM_000492.4(CFTR):c.3964-1_3964delinsTT rs2485181593
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_001379610.1(SPINK1):c.162del (p.Asn56fs) rs2480198981
NM_001379610.1(SPINK1):c.165del (p.Asn56fs) rs1756441909
NM_001379610.1(SPINK1):c.55+1G>A rs1561606446
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.346C>T (p.Arg116Cys) rs387906698
NM_002769.5(PRSS1):c.347G>C (p.Arg116Pro) rs199769221
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.68A>G (p.Lys23Arg) rs111033567
NM_007272.3(CTRC):c.129G>A (p.Trp43Ter) rs2526289681
NM_007272.3(CTRC):c.132G>A (p.Gln44=) rs901779500
NM_007272.3(CTRC):c.133-1G>T rs1557508272
NM_007272.3(CTRC):c.231-2A>G rs1570783505
NM_007272.3(CTRC):c.2T>C (p.Met1Thr) rs1455019932
NM_007272.3(CTRC):c.429_430delinsTGGC (p.Glu144fs) rs1570784592
NM_007272.3(CTRC):c.464G>A (p.Cys155Tyr) rs2526297384
NM_007272.3(CTRC):c.494-1G>A rs766917452
NM_007272.3(CTRC):c.494-2A>G rs1708187577
NM_007272.3(CTRC):c.520C>T (p.Gln174Ter) rs1290349619
NM_007272.3(CTRC):c.627dup (p.Ser210fs) rs1708190814
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg) rs202058123
NM_007272.3(CTRC):c.716C>G (p.Ser239Cys)

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