ClinVar Miner

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

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_001868.4(CPA1):c.816G>A (p.Ser272=) rs34843162 0.00217
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_001868.4(CPA1):c.497G>A (p.Gly166Asp) rs144546424 0.00209
NM_001868.4(CPA1):c.621C>T (p.Thr207=) rs61735158 0.00205
NC_000007.14:g.117479634A>G rs185028612 0.00200
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_001868.4(CPA1):c.371C>T (p.Thr124Ile) rs150653308 0.00165
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_000492.4(CFTR):c.4243-5C>T rs114402068 0.00138
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=) rs35006579 0.00133
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_001868.4(CPA1):c.867T>C (p.Ile289=) rs115663631 0.00108
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_000492.4(CFTR):c.4243-20A>G rs138025486 0.00086
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_001868.4(CPA1):c.281A>G (p.Gln94Arg) rs41274176 0.00068
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) rs151235408 0.00056
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_001868.4(CPA1):c.79C>T (p.Arg27Ter) rs141209213 0.00038
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_002769.5(PRSS1):c.410C>T (p.Thr137Met) rs117497341 0.00024
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala) rs201486613 0.00020
NM_007272.3(CTRC):c.216C>T (p.Ala72=) rs140059353 0.00019
NM_001868.4(CPA1):c.1021G>A (p.Ala341Thr) rs77792157 0.00016
NM_002769.5(PRSS1):c.40+13C>T rs368872847 0.00016
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) rs1800104 0.00014
NM_001868.4(CPA1):c.774C>T (p.Asp258=) rs368689434 0.00008
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg) rs541223359 0.00006
NM_001379610.1(SPINK1):c.111T>C (p.Asn37=) rs769216699 0.00004
NM_000492.4(CFTR):c.1050C>G (p.Val350=) rs1038437842 0.00002
NM_000492.4(CFTR):c.3033A>G (p.Leu1011=) rs773752573 0.00002
NM_002769.5(PRSS1):c.555T>C (p.Cys185=) rs1798833368 0.00001
NC_000007.14:g.117479807G>C rs139688774
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_001868.4(CPA1):c.696+6G>A rs1046847986
NM_001868.4(CPA1):c.788-5C>G rs201705049
NM_002769.5(PRSS1):c.270A>G (p.Ala90=) rs371037592
NM_002769.5(PRSS1):c.40+40del rs748794481
NM_002769.5(PRSS1):c.447C>T (p.Ser149=) rs372698855
NM_002769.5(PRSS1):c.49C>T (p.Pro17Ser) rs770782578
NM_002769.5(PRSS1):c.552C>T (p.Phe184=) rs767583768
NM_007272.3(CTRC):c.21C>T (p.Leu7=) rs1279354220

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