ClinVar Miner

List of variants studied for Hereditary pancreatitis by GeneReviews

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1408= (p.Val470=) rs213950 0.43268
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) rs111966833 0.00389
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00012
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_007272.3(CTRC):c.164G>A (p.Trp55Ter) rs121909294 0.00004
NM_001379610.1(SPINK1):c.27del (p.Ser10fs) rs193922659 0.00002
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys) rs111033568 0.00002
NM_001379610.1(SPINK1):c.199C>T (p.Arg67Cys) rs515726208 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.3963-78_4242+577del
NM_000492.3(CFTR):c.54-5940_273+10250del
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_001379610.1(SPINK1):c.150T>G (p.Asp50Glu) rs515726206
NM_001379610.1(SPINK1):c.160T>C (p.Tyr54His) rs515726207
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_007272.3(CTRC):c.180C>A (p.Gly60=) rs497078
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del) rs515726210
NP_002760.1(PRSS1):p.Cys139Ser

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