ClinVar Miner

List of variants reported as benign for Hereditary pancreatitis by Invitae

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NC_000007.14:g.142749281A>C rs4726576 0.56847
NM_002769.5(PRSS1):c.738T>C (p.Asn246=) rs6667 0.53816
NM_001379610.1(SPINK1):c.174C>T (p.Cys58=) rs35737774 0.04434
NM_001379610.1(SPINK1):c.-41G>A rs79438751 0.03918
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.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_001379610.1(SPINK1):c.194+184T>A rs114094661 0.01063
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
NM_007272.3(CTRC):c.156C>T (p.Asn52=) rs77373944 0.00830
NM_001379610.1(SPINK1):c.231G>A (p.Gly77=) rs34809998 0.00827
NM_007272.3(CTRC):c.690G>A (p.Glu230=) rs75971387 0.00820
NM_002769.5(PRSS1):c.592-79G>A rs531271210 0.00775
NM_002769.5(PRSS1):c.279C>T (p.Ile93=) rs139664510 0.00489
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) rs111966833 0.00389
NM_002769.5(PRSS1):c.592-24C>T rs192452846 0.00354
NM_001379610.1(SPINK1):c.88-23A>T rs199929811 0.00219
NM_007272.3(CTRC):c.640-12G>A rs183053579 0.00194
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=) rs35006579 0.00133
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_002769.5(PRSS1):c.40+10A>G rs199613498 0.00066
NM_007272.3(CTRC):c.640-14C>T rs202049497 0.00060
NM_001379610.1(SPINK1):c.-22C>T rs190219062 0.00051
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=) rs147454311 0.00048
NM_007272.3(CTRC):c.231-14C>T rs374364850 0.00046
NM_002769.5(PRSS1):c.417C>T (p.Cys139=) rs141847266 0.00032
NM_002769.5(PRSS1):c.410C>T (p.Thr137Met) rs117497341 0.00024
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_002769.5(PRSS1):c.40+13C>T rs368872847 0.00016
NM_007272.3(CTRC):c.533A>G (p.Gln178Arg) rs200678111 0.00009
NM_007272.3(CTRC):c.356+7G>C rs773334021 0.00003
NM_001379610.1(SPINK1):c.195-15dup
NM_001379610.1(SPINK1):c.195-70_195-67dup rs554919880
NM_002769.4(PRSS1):c.-30_-28delTCC rs386134264
NM_002769.5(PRSS1):c.146G>T (p.Gly49Val) rs138464021
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser) rs144422014
NM_002769.5(PRSS1):c.166C>T (p.Gln56Ter) rs147366981
NM_002769.5(PRSS1):c.200+17del
NM_002769.5(PRSS1):c.255G>A (p.Glu85=) rs376671702
NM_002769.5(PRSS1):c.41-49C>T
NM_002769.5(PRSS1):c.454+16A>T rs377570765
NM_002769.5(PRSS1):c.468C>T (p.Asp156=) rs146076691
NM_002769.5(PRSS1):c.486T>C (p.Asp162=) rs6666
NM_002769.5(PRSS1):c.588T>C (p.Cys196=) rs751264273
NM_002769.5(PRSS1):c.592-3dup
NM_002769.5(PRSS1):c.617G>C (p.Cys206Ser) rs150930992
NM_002769.5(PRSS1):c.625C>G (p.Gln209Glu)
NM_002769.5(PRSS1):c.637G>A (p.Val213Ile) rs200902389
NM_002769.5(PRSS1):c.72C>T (p.Ile24=) rs372637371
NM_007272.3(CTRC):c.-59C>T rs183658182
NM_007272.3(CTRC):c.180C>A (p.Gly60=) rs497078
NM_007272.3(CTRC):c.180C>T (p.Gly60=) rs497078

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