ClinVar Miner

List of variants reported as likely pathogenic for Hereditary pancreatitis

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Total variants: 23
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HGVS dbSNP
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_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.415T>A (p.Cys139Ser) rs397507440
NM_002769.5(PRSS1):c.68A>G (p.Lys23Arg) rs111033567
NM_003122.4(SPINK1):c.1A>T (p.Met1Leu) rs369163833
NM_003122.4(SPINK1):c.55+1G>T rs1561606446
NM_007272.3(CTRC):c.133-1G>T rs1557508272
NM_007272.3(CTRC):c.231-2A>G rs1570783505
NM_007272.3(CTRC):c.356+1G>A
NM_007272.3(CTRC):c.429_430delinsTGGC (p.Glu144fs) rs1570784592
NM_007272.3(CTRC):c.494-1G>C rs766917452
NM_007272.3(CTRC):c.640-12G>A rs183053579
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser) rs202058123
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293

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