ClinVar Miner

List of variants reported for Hereditary pancreatitis by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_002769.5(PRSS1):c.738T>C (p.Asn246=) rs6667 0.53816
NM_007272.3(CTRC):c.640-35G>T rs10927786 0.34421
NM_007272.3(CTRC):c.493+51C>A rs10803384 0.21273
NM_007272.3(CTRC):c.493+52G>A rs545634 0.10881
NM_007272.3(CTRC):c.493+49G>C rs6679763 0.04268
NM_007272.3(CTRC):c.*86A>G rs760937 0.02983
NM_007272.3(CTRC):c.514A>G (p.Lys172Glu) rs34949635 0.02786
NM_007272.3(CTRC):c.*83T>C rs75456156 0.02717
NM_007272.3(CTRC):c.285C>T (p.Asp95=) rs41307798 0.02352
NM_007272.3(CTRC):c.230+38C>T rs115742618 0.01455
NM_007272.3(CTRC):c.156C>T (p.Asn52=) rs77373944 0.00830
NM_007272.3(CTRC):c.690G>A (p.Glu230=) rs75971387 0.00820
NM_002769.5(PRSS1):c.279C>T (p.Ile93=) rs139664510 0.00489
NM_002769.5(PRSS1):c.567T>C (p.Leu189=) rs377124851 0.00444
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_007272.3(CTRC):c.793-42G>A rs201856611 0.00267
NM_007272.3(CTRC):c.793-45G>T rs199740500 0.00267
NM_007272.3(CTRC):c.640-12G>A rs183053579 0.00194
NM_002769.5(PRSS1):c.592-11C>T rs183791770 0.00131
NM_002769.5(PRSS1):c.592-8C>T rs200381474 0.00131
NM_007272.3(CTRC):c.555G>A (p.Thr185=) rs113087202 0.00097
NM_007272.3(CTRC):c.494-6C>T rs111790169 0.00096
NM_007272.3(CTRC):c.357-44C>G rs200242846 0.00093
NM_007272.3(CTRC):c.40+24G>A rs142888713 0.00071
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_007272.3(CTRC):c.640-14C>T rs202049497 0.00060
NM_007272.3(CTRC):c.231-14C>T rs374364850 0.00046
NM_002769.5(PRSS1):c.121C>T (p.Leu41=) rs369646357 0.00034
NM_007272.3(CTRC):c.110G>A (p.Arg37Gln) rs145868278 0.00032
NM_007272.3(CTRC):c.251T>C (p.Val84Ala) rs200369419 0.00028
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290 0.00024
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala) rs201486613 0.00020
NM_007272.3(CTRC):c.27G>A (p.Ala9=) rs374821228 0.00016
NM_007272.3(CTRC):c.747G>A (p.Pro249=) rs150078209 0.00012
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met) rs143860237 0.00011
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_007272.3(CTRC):c.533A>G (p.Gln178Arg) rs200678111 0.00009
NM_007272.3(CTRC):c.550G>A (p.Ala184Thr) rs761546594 0.00009
NM_007272.3(CTRC):c.356+17C>G rs376786664 0.00007
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu) rs201550522 0.00006
NM_002769.5(PRSS1):c.591+8G>C rs371601976 0.00006
NM_007272.3(CTRC):c.678C>T (p.Asn226=) rs777608312 0.00006
NM_007272.3(CTRC):c.52G>A (p.Gly18Arg) rs200576965 0.00005
NM_007272.3(CTRC):c.139C>T (p.Leu47Phe) rs769324644 0.00004
NM_007272.3(CTRC):c.164G>A (p.Trp55Ter) rs121909294 0.00004
NM_007272.3(CTRC):c.356G>A (p.Arg119His) rs748221308 0.00004
NM_007272.3(CTRC):c.493+3G>A rs772436044 0.00004
NM_002769.5(PRSS1):c.364C>G (p.Arg122Gly) rs111033568 0.00003
NM_007272.3(CTRC):c.181G>A (p.Gly61Arg) rs769482036 0.00003
NM_007272.3(CTRC):c.356+7G>C rs773334021 0.00003
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser) rs202058123 0.00003
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys) rs111033568 0.00002
NM_007272.3(CTRC):c.494-13A>G rs762842599 0.00002
NM_002769.5(PRSS1):c.200+8T>C rs886038518 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_002769.5(PRSS1):c.93G>A (p.Glu31=) rs745623963 0.00001
NM_007272.3(CTRC):c.212C>T (p.Thr71Ile) rs560916216 0.00001
NM_007272.3(CTRC):c.230+7G>A rs754126755 0.00001
NM_007272.3(CTRC):c.26C>T (p.Ala9Val) rs772818172 0.00001
NM_007272.3(CTRC):c.40+18G>A rs1708076823 0.00001
NM_007272.3(CTRC):c.493+38G>A rs1488630264 0.00001
NM_007272.3(CTRC):c.595A>T (p.Thr199Ser) rs751977111 0.00001
NM_007272.3(CTRC):c.639+45A>G rs776164776 0.00001
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_002769.5(PRSS1):c.162C>T (p.Asn54=) rs148440491
NM_002769.5(PRSS1):c.200+1G>A rs143909348
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys) rs387906698
NM_002769.5(PRSS1):c.486T>C (p.Asp162=) rs6666
NM_002769.5(PRSS1):c.592-8C>A rs200381474
NM_007272.3(CTRC):c.-59C>T rs183658182
NM_007272.3(CTRC):c.132G>A (p.Gln44=)
NM_007272.3(CTRC):c.13A>T (p.Thr5Ser)
NM_007272.3(CTRC):c.180C>A (p.Gly60=) rs497078
NM_007272.3(CTRC):c.180C>T (p.Gly60=) rs497078
NM_007272.3(CTRC):c.231-2A>G rs1570783505
NM_007272.3(CTRC):c.248G>A (p.Arg83His) rs781768384
NM_007272.3(CTRC):c.249T>C (p.Arg83=) rs1570783555
NM_007272.3(CTRC):c.357-3C>T
NM_007272.3(CTRC):c.40+6C>T
NM_007272.3(CTRC):c.464G>A (p.Cys155Tyr)
NM_007272.3(CTRC):c.480G>A (p.Trp160Ter)
NM_007272.3(CTRC):c.499G>C (p.Gly167Arg) rs141205711
NM_007272.3(CTRC):c.640-34del rs373970317
NM_007272.3(CTRC):c.640-40G>C rs191025876
NM_007272.3(CTRC):c.640-40G>T rs191025876
NM_007272.3(CTRC):c.640-41G>T rs186735838
NM_007272.3(CTRC):c.640-42G>C rs199897030
NM_007272.3(CTRC):c.716C>T (p.Ser239Phe) rs1708205861
NM_007272.3(CTRC):c.737G>T (p.Arg246Leu) rs147925927
NM_007272.3(CTRC):c.747G>T (p.Pro249=) rs150078209

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