ClinVar Miner

List of variants reported as benign for Hereditary pancreatitis by Sema4, Sema4

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23047
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_001379610.1(SPINK1):c.-41G>A rs79438751 0.03655
NM_001379610.1(SPINK1):c.194+90A>T rs112569673 0.03151
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe) rs35877720 0.03139
NM_007272.3(CTRC):c.*86A>G rs760937 0.02983
NM_007272.3(CTRC):c.*83T>C rs75456156 0.02717
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_000492.4(CFTR):c.*1043A>C rs10234329 0.01452
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
NM_001379610.1(SPINK1):c.56-37T>C rs17107318 0.00736
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00634
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_000492.4(CFTR):c.3718-2530A>G rs213990 0.00445
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) rs111966833 0.00389
NM_001379610.1(SPINK1):c.88-23A>T rs199929811 0.00219
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00168
NM_000492.4(CFTR):c.1393-42G>A rs34906874 0.00148
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu) rs201550522 0.00033
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) rs201434579 0.00021
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_000492.4(CFTR):c.4243-35del rs193922527
NM_001379610.1(SPINK1):c.195-70_195-67dup rs554919880
NM_002769.5(PRSS1):c.40C>G (p.Leu14Val) rs747228052

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