ClinVar Miner

List of variants in gene combination PRSS1, TRB reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 302
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HGVS dbSNP gnomAD frequency
NM_002769.5(PRSS1):c.592-24C>T rs192452846 0.00354
NM_002769.5(PRSS1):c.*8A>G rs750733084 0.00010
NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys) rs111033564 0.00010
NM_002769.5(PRSS1):c.283C>T (p.Arg95Cys) rs201775810 0.00010
NM_002769.5(PRSS1):c.40+1G>A rs149125789 0.00009
NM_002769.5(PRSS1):c.487G>A (p.Ala163Thr) rs557691366 0.00009
NM_002769.5(PRSS1):c.284G>A (p.Arg95His) rs375820192 0.00008
NM_002769.5(PRSS1):c.541A>G (p.Ser181Gly) rs376907511 0.00006
NM_002769.5(PRSS1):c.107C>G (p.Pro36Arg) rs769459903 0.00005
NM_002769.5(PRSS1):c.447C>A (p.Ser149Arg) rs372698855 0.00005
NM_002769.5(PRSS1):c.626A>G (p.Gln209Arg) rs576596527 0.00005
NM_002769.5(PRSS1):c.247G>C (p.Gly83Arg) rs372411481 0.00004
NM_002769.5(PRSS1):c.400G>A (p.Ala134Thr) rs752456117 0.00004
NM_002769.5(PRSS1):c.548T>C (p.Met183Thr) rs762123204 0.00004
NM_002769.5(PRSS1):c.200+18G>A rs778658500 0.00003
NM_002769.5(PRSS1):c.256C>T (p.Gln86Ter) rs146398318 0.00003
NM_002769.5(PRSS1):c.364C>G (p.Arg122Gly) rs111033568 0.00003
NM_002769.5(PRSS1):c.455C>G (p.Ala152Gly) rs770315312 0.00003
NM_002769.5(PRSS1):c.200C>T (p.Ser67Phe) rs765342413 0.00002
NM_002769.5(PRSS1):c.35C>T (p.Ala12Val) rs772363999 0.00002
NM_002769.5(PRSS1):c.361G>A (p.Ala121Thr) rs199422123 0.00002
NM_002769.5(PRSS1):c.454G>A (p.Ala152Thr) rs766731858 0.00002
NM_002769.5(PRSS1):c.605G>C (p.Gly202Ala) rs199531292 0.00002
NM_002769.5(PRSS1):c.702C>A (p.Asn234Lys) rs773353079 0.00002
NM_002769.5(PRSS1):c.73G>A (p.Val25Ile) rs768051473 0.00002
NM_002769.5(PRSS1):c.112C>G (p.Gln38Glu) rs775259109 0.00001
NM_002769.5(PRSS1):c.163G>C (p.Glu55Gln) rs1365488828 0.00001
NM_002769.5(PRSS1):c.203G>T (p.Arg68Leu) rs757111793 0.00001
NM_002769.5(PRSS1):c.261C>A (p.Phe87Leu) rs767354237 0.00001
NM_002769.5(PRSS1):c.264C>G (p.Ile88Met) rs199836666 0.00001
NM_002769.5(PRSS1):c.277A>T (p.Ile93Phe) rs1484477439 0.00001
NM_002769.5(PRSS1):c.304A>G (p.Lys102Glu) rs754618801 0.00001
NM_002769.5(PRSS1):c.38C>T (p.Ala13Val) rs773357729 0.00001
NM_002769.5(PRSS1):c.455-3C>A rs760226452 0.00001
NM_002769.5(PRSS1):c.497T>C (p.Leu166Pro) rs776120935 0.00001
NM_002769.5(PRSS1):c.653A>T (p.Asp218Val) rs199878511 0.00001
NM_002769.4(PRSS1):c.-28_-8del21 rs755789680
NM_002769.5(PRSS1):c.-1C>T
NM_002769.5(PRSS1):c.-4C>A
NM_002769.5(PRSS1):c.112C>A (p.Gln38Lys)
NM_002769.5(PRSS1):c.118T>A (p.Ser40Thr)
NM_002769.5(PRSS1):c.118T>G (p.Ser40Ala)
NM_002769.5(PRSS1):c.119C>A (p.Ser40Tyr) rs768277012
NM_002769.5(PRSS1):c.119C>G (p.Ser40Cys)
NM_002769.5(PRSS1):c.125A>G (p.Asn42Ser)
NM_002769.5(PRSS1):c.130G>A (p.Gly44Ser)
NM_002769.5(PRSS1):c.134A>C (p.Tyr45Ser)
NM_002769.5(PRSS1):c.134A>G (p.Tyr45Cys)
NM_002769.5(PRSS1):c.137A>G (p.His46Arg)
NM_002769.5(PRSS1):c.139T>G (p.Phe47Val)
NM_002769.5(PRSS1):c.152C>A (p.Ser51Tyr)
NM_002769.5(PRSS1):c.154C>G (p.Leu52Val)
NM_002769.5(PRSS1):c.163G>A (p.Glu55Lys) rs1365488828
NM_002769.5(PRSS1):c.166C>T (p.Gln56Ter) rs147366981
NM_002769.5(PRSS1):c.167A>G (p.Gln56Arg)
NM_002769.5(PRSS1):c.16A>G (p.Ile6Val)
NM_002769.5(PRSS1):c.16A>T (p.Ile6Phe) rs1585972378
NM_002769.5(PRSS1):c.172G>A (p.Val58Met)
NM_002769.5(PRSS1):c.175G>A (p.Val59Ile)
NM_002769.5(PRSS1):c.178T>G (p.Ser60Ala)
NM_002769.5(PRSS1):c.189C>G (p.His63Gln)
NM_002769.5(PRSS1):c.190T>C (p.Cys64Arg)
NM_002769.5(PRSS1):c.190T>G (p.Cys64Gly) rs1798627075
NM_002769.5(PRSS1):c.193T>C (p.Tyr65His)
NM_002769.5(PRSS1):c.201-8C>A
NM_002769.5(PRSS1):c.203G>A (p.Arg68His) rs757111793
NM_002769.5(PRSS1):c.206T>A (p.Ile69Asn)
NM_002769.5(PRSS1):c.215G>C (p.Arg72Thr)
NM_002769.5(PRSS1):c.217C>A (p.Leu73Met)
NM_002769.5(PRSS1):c.220G>A (p.Gly74Arg)
NM_002769.5(PRSS1):c.221dup (p.Glu75fs)
NM_002769.5(PRSS1):c.226C>T (p.His76Tyr)
NM_002769.5(PRSS1):c.228C>A (p.His76Gln)
NM_002769.5(PRSS1):c.228C>G (p.His76Gln)
NM_002769.5(PRSS1):c.232A>C (p.Ile78Leu)
NM_002769.5(PRSS1):c.238G>A (p.Val80Ile)
NM_002769.5(PRSS1):c.239T>G (p.Val80Gly) rs1798760073
NM_002769.5(PRSS1):c.242T>C (p.Leu81Pro)
NM_002769.5(PRSS1):c.244G>C (p.Glu82Gln)
NM_002769.5(PRSS1):c.246G>T (p.Glu82Asp)
NM_002769.5(PRSS1):c.256C>A (p.Gln86Lys)
NM_002769.5(PRSS1):c.259T>A (p.Phe87Ile)
NM_002769.5(PRSS1):c.263T>C (p.Ile88Thr)
NM_002769.5(PRSS1):c.265A>C (p.Asn89His)
NM_002769.5(PRSS1):c.265A>G (p.Asn89Asp)
NM_002769.5(PRSS1):c.266A>G (p.Asn89Ser)
NM_002769.5(PRSS1):c.266A>T (p.Asn89Ile) rs1446407497
NM_002769.5(PRSS1):c.267T>A (p.Asn89Lys)
NM_002769.5(PRSS1):c.268G>C (p.Ala90Pro)
NM_002769.5(PRSS1):c.275A>T (p.Lys92Met)
NM_002769.5(PRSS1):c.276G>C (p.Lys92Asn)
NM_002769.5(PRSS1):c.282C>G (p.Ile94Met)
NM_002769.5(PRSS1):c.283C>G (p.Arg95Gly)
NM_002769.5(PRSS1):c.284G>C (p.Arg95Pro)
NM_002769.5(PRSS1):c.289C>T (p.Pro97Ser)
NM_002769.5(PRSS1):c.290C>A (p.Pro97His)
NM_002769.5(PRSS1):c.290C>T (p.Pro97Leu)
NM_002769.5(PRSS1):c.292C>G (p.Gln98Glu)
NM_002769.5(PRSS1):c.294A>T (p.Gln98His) rs1563261128
NM_002769.5(PRSS1):c.298G>C (p.Asp100His) rs199507985
NM_002769.5(PRSS1):c.298G>T (p.Asp100Tyr)
NM_002769.5(PRSS1):c.300C>G (p.Asp100Glu)
NM_002769.5(PRSS1):c.302G>A (p.Arg101Lys)
NM_002769.5(PRSS1):c.303_305delinsCCG (p.Arg101_Lys102delinsSerArg)
NM_002769.5(PRSS1):c.317A>G (p.Asn106Ser)
NM_002769.5(PRSS1):c.318T>A (p.Asn106Lys)
NM_002769.5(PRSS1):c.326T>A (p.Met109Lys)
NM_002769.5(PRSS1):c.326T>C (p.Met109Thr)
NM_002769.5(PRSS1):c.326T>G (p.Met109Arg)
NM_002769.5(PRSS1):c.327G>T (p.Met109Ile)
NM_002769.5(PRSS1):c.331A>G (p.Ile111Val)
NM_002769.5(PRSS1):c.332T>A (p.Ile111Asn)
NM_002769.5(PRSS1):c.338T>A (p.Leu113His)
NM_002769.5(PRSS1):c.341C>G (p.Ser114Cys)
NM_002769.5(PRSS1):c.346C>A (p.Arg116Ser)
NM_002769.5(PRSS1):c.347G>A (p.Arg116His) rs199769221
NM_002769.5(PRSS1):c.349G>A (p.Ala117Thr)
NM_002769.5(PRSS1):c.349G>T (p.Ala117Ser)
NM_002769.5(PRSS1):c.34G>A (p.Ala12Thr)
NM_002769.5(PRSS1):c.350C>T (p.Ala117Val) rs1798772289
NM_002769.5(PRSS1):c.352G>A (p.Val118Ile)
NM_002769.5(PRSS1):c.353T>A (p.Val118Glu)
NM_002769.5(PRSS1):c.353T>G (p.Val118Gly)
NM_002769.5(PRSS1):c.355A>G (p.Ile119Val)
NM_002769.5(PRSS1):c.360C>A (p.Asn120Lys)
NM_002769.5(PRSS1):c.362C>T (p.Ala121Val) rs1798773882
NM_002769.5(PRSS1):c.367G>A (p.Val123Met) rs144403091
NM_002769.5(PRSS1):c.367G>C (p.Val123Leu)
NM_002769.5(PRSS1):c.367G>T (p.Val123Leu) rs144403091
NM_002769.5(PRSS1):c.368T>A (p.Val123Glu)
NM_002769.5(PRSS1):c.371C>T (p.Ser124Phe)
NM_002769.5(PRSS1):c.373A>G (p.Thr125Ala)
NM_002769.5(PRSS1):c.378C>G (p.Ile126Met)
NM_002769.5(PRSS1):c.380C>T (p.Ser127Phe)
NM_002769.5(PRSS1):c.383T>C (p.Leu128Pro)
NM_002769.5(PRSS1):c.385C>A (p.Pro129Thr)
NM_002769.5(PRSS1):c.385C>T (p.Pro129Ser)
NM_002769.5(PRSS1):c.386C>G (p.Pro129Arg)
NM_002769.5(PRSS1):c.386C>T (p.Pro129Leu) rs768673799
NM_002769.5(PRSS1):c.388A>G (p.Thr130Ala)
NM_002769.5(PRSS1):c.389C>A (p.Thr130Asn)
NM_002769.5(PRSS1):c.389C>T (p.Thr130Ile) rs193922655
NM_002769.5(PRSS1):c.391G>A (p.Ala131Thr) rs141011596
NM_002769.5(PRSS1):c.392C>A (p.Ala131Asp)
NM_002769.5(PRSS1):c.395C>A (p.Pro132His) rs759452330
NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg) rs193922656
NM_002769.5(PRSS1):c.40+3_40+6del rs897784116
NM_002769.5(PRSS1):c.400G>T (p.Ala134Ser)
NM_002769.5(PRSS1):c.404C>A (p.Thr135Asn)
NM_002769.5(PRSS1):c.406G>T (p.Gly136Cys)
NM_002769.5(PRSS1):c.407G>T (p.Gly136Val)
NM_002769.5(PRSS1):c.40C>A (p.Leu14Ile)
NM_002769.5(PRSS1):c.40C>T (p.Leu14Phe) rs747228052
NM_002769.5(PRSS1):c.41-5del rs1161040461
NM_002769.5(PRSS1):c.413A>C (p.Lys138Thr)
NM_002769.5(PRSS1):c.413A>G (p.Lys138Arg)
NM_002769.5(PRSS1):c.414G>C (p.Lys138Asn)
NM_002769.5(PRSS1):c.419T>A (p.Leu140His)
NM_002769.5(PRSS1):c.424T>C (p.Ser142Pro)
NM_002769.5(PRSS1):c.425C>G (p.Ser142Cys)
NM_002769.5(PRSS1):c.425C>T (p.Ser142Phe)
NM_002769.5(PRSS1):c.428G>T (p.Gly143Val)
NM_002769.5(PRSS1):c.432G>T (p.Trp144Cys)
NM_002769.5(PRSS1):c.435del (p.Asn146fs)
NM_002769.5(PRSS1):c.440C>A (p.Thr147Asn)
NM_002769.5(PRSS1):c.442G>A (p.Ala148Thr)
NM_002769.5(PRSS1):c.443C>A (p.Ala148Glu)
NM_002769.5(PRSS1):c.443C>T (p.Ala148Val) rs762545562
NM_002769.5(PRSS1):c.446G>A (p.Ser149Asn)
NM_002769.5(PRSS1):c.44C>T (p.Ala15Val)
NM_002769.5(PRSS1):c.452G>A (p.Gly151Asp)
NM_002769.5(PRSS1):c.454+13C>T
NM_002769.5(PRSS1):c.454+3G>A
NM_002769.5(PRSS1):c.454+75A>G rs1376416883
NM_002769.5(PRSS1):c.455-14C>T
NM_002769.5(PRSS1):c.456C>A (p.Ala152=)
NM_002769.5(PRSS1):c.459C>A (p.Asp153Glu)
NM_002769.5(PRSS1):c.463C>A (p.Pro155Thr)
NM_002769.5(PRSS1):c.464C>G (p.Pro155Arg)
NM_002769.5(PRSS1):c.467A>G (p.Asp156Gly)
NM_002769.5(PRSS1):c.468C>G (p.Asp156Glu)
NM_002769.5(PRSS1):c.469G>A (p.Glu157Lys) rs200890507
NM_002769.5(PRSS1):c.469G>C (p.Glu157Gln) rs200890507
NM_002769.5(PRSS1):c.470A>G (p.Glu157Gly)
NM_002769.5(PRSS1):c.475C>T (p.Gln159Ter)
NM_002769.5(PRSS1):c.476A>C (p.Gln159Pro)
NM_002769.5(PRSS1):c.476A>G (p.Gln159Arg)
NM_002769.5(PRSS1):c.479G>A (p.Cys160Tyr) rs778796800
NM_002769.5(PRSS1):c.482T>G (p.Leu161Arg)
NM_002769.5(PRSS1):c.484G>C (p.Asp162His)
NM_002769.5(PRSS1):c.486T>A (p.Asp162Glu) rs6666
NM_002769.5(PRSS1):c.486_487inv (p.Ala163Thr)
NM_002769.5(PRSS1):c.487G>C (p.Ala163Pro)
NM_002769.5(PRSS1):c.487G>T (p.Ala163Ser)
NM_002769.5(PRSS1):c.493G>A (p.Val165Met)
NM_002769.5(PRSS1):c.499A>G (p.Ser167Gly)
NM_002769.5(PRSS1):c.500G>C (p.Ser167Thr) rs1232891794
NM_002769.5(PRSS1):c.502C>A (p.Gln168Lys)
NM_002769.5(PRSS1):c.504G>C (p.Gln168His)
NM_002769.5(PRSS1):c.505G>A (p.Ala169Thr)
NM_002769.5(PRSS1):c.509A>T (p.Lys170Met)
NM_002769.5(PRSS1):c.50C>A (p.Pro17His)
NM_002769.5(PRSS1):c.50C>G (p.Pro17Arg)
NM_002769.5(PRSS1):c.50C>T (p.Pro17Leu) rs776401461
NM_002769.5(PRSS1):c.510G>C (p.Lys170Asn)
NM_002769.5(PRSS1):c.511T>G (p.Cys171Gly)
NM_002769.5(PRSS1):c.514G>C (p.Glu172Gln)
NM_002769.5(PRSS1):c.516A>C (p.Glu172Asp)
NM_002769.5(PRSS1):c.517G>T (p.Ala173Ser)
NM_002769.5(PRSS1):c.518C>G (p.Ala173Gly)
NM_002769.5(PRSS1):c.518C>T (p.Ala173Val)
NM_002769.5(PRSS1):c.521C>T (p.Ser174Phe)
NM_002769.5(PRSS1):c.523T>A (p.Tyr175Asn) rs756821075
NM_002769.5(PRSS1):c.527del (p.Pro176fs)
NM_002769.5(PRSS1):c.52T>C (p.Phe18Leu)
NM_002769.5(PRSS1):c.530G>C (p.Gly177Ala)
NM_002769.5(PRSS1):c.530G>T (p.Gly177Val)
NM_002769.5(PRSS1):c.534G>C (p.Lys178Asn)
NM_002769.5(PRSS1):c.535A>C (p.Ile179Leu)
NM_002769.5(PRSS1):c.535A>T (p.Ile179Phe)
NM_002769.5(PRSS1):c.546C>G (p.Asn182Lys)
NM_002769.5(PRSS1):c.549G>A (p.Met183Ile)
NM_002769.5(PRSS1):c.54del (p.Phe18fs) rs779352917
NM_002769.5(PRSS1):c.552C>A (p.Phe184Leu)
NM_002769.5(PRSS1):c.554G>C (p.Cys185Ser)
NM_002769.5(PRSS1):c.556G>A (p.Val186Met)
NM_002769.5(PRSS1):c.559G>A (p.Gly187Ser)
NM_002769.5(PRSS1):c.560G>A (p.Gly187Asp)
NM_002769.5(PRSS1):c.563T>A (p.Phe188Tyr)
NM_002769.5(PRSS1):c.565C>T (p.Leu189Phe)
NM_002769.5(PRSS1):c.56A>G (p.Asp19Gly)
NM_002769.5(PRSS1):c.581A>T (p.Asp194Val)
NM_002769.5(PRSS1):c.586T>C (p.Cys196Arg)
NM_002769.5(PRSS1):c.586T>G (p.Cys196Gly)
NM_002769.5(PRSS1):c.58G>A (p.Asp20Asn) rs774895653
NM_002769.5(PRSS1):c.58G>C (p.Asp20His)
NM_002769.5(PRSS1):c.592-1G>C
NM_002769.5(PRSS1):c.592-4C>G rs375342697
NM_002769.5(PRSS1):c.593G>A (p.Gly198Asp)
NM_002769.5(PRSS1):c.593G>T (p.Gly198Val)
NM_002769.5(PRSS1):c.599C>A (p.Ser200Tyr)
NM_002769.5(PRSS1):c.601G>C (p.Gly201Arg)
NM_002769.5(PRSS1):c.602G>T (p.Gly201Val)
NM_002769.5(PRSS1):c.604G>A (p.Gly202Ser)
NM_002769.5(PRSS1):c.604G>T (p.Gly202Cys)
NM_002769.5(PRSS1):c.607C>A (p.Pro203Thr)
NM_002769.5(PRSS1):c.608C>T (p.Pro203Leu)
NM_002769.5(PRSS1):c.610G>A (p.Val204Met) rs1563263032
NM_002769.5(PRSS1):c.610G>C (p.Val204Leu)
NM_002769.5(PRSS1):c.613G>A (p.Val205Ile)
NM_002769.5(PRSS1):c.61G>C (p.Asp21His)
NM_002769.5(PRSS1):c.620A>G (p.Asn207Ser)
NM_002769.5(PRSS1):c.621T>A (p.Asn207Lys)
NM_002769.5(PRSS1):c.622G>A (p.Gly208Arg)
NM_002769.5(PRSS1):c.628C>G (p.Leu210Val)
NM_002769.5(PRSS1):c.62A>T (p.Asp21Val)
NM_002769.5(PRSS1):c.635G>C (p.Gly212Ala)
NM_002769.5(PRSS1):c.640G>A (p.Val214Ile)
NM_002769.5(PRSS1):c.640G>T (p.Val214Phe)
NM_002769.5(PRSS1):c.643T>C (p.Ser215Pro)
NM_002769.5(PRSS1):c.647G>T (p.Trp216Leu)
NM_002769.5(PRSS1):c.649G>A (p.Gly217Ser)
NM_002769.5(PRSS1):c.652G>A (p.Asp218Asn)
NM_002769.5(PRSS1):c.656G>A (p.Gly219Asp)
NM_002769.5(PRSS1):c.659G>A (p.Cys220Tyr)
NM_002769.5(PRSS1):c.662C>T (p.Ala221Val)
NM_002769.5(PRSS1):c.667A>G (p.Lys223Glu)
NM_002769.5(PRSS1):c.669G>C (p.Lys223Asn) rs1439609895
NM_002769.5(PRSS1):c.671A>G (p.Asn224Ser)
NM_002769.5(PRSS1):c.672C>G (p.Asn224Lys) rs1184689147
NM_002769.5(PRSS1):c.67A>G (p.Lys23Glu)
NM_002769.5(PRSS1):c.680G>A (p.Gly227Glu)
NM_002769.5(PRSS1):c.680G>C (p.Gly227Ala)
NM_002769.5(PRSS1):c.685T>C (p.Tyr229His)
NM_002769.5(PRSS1):c.688A>T (p.Thr230Ser)
NM_002769.5(PRSS1):c.694G>C (p.Val232Leu)
NM_002769.5(PRSS1):c.695T>G (p.Val232Gly)
NM_002769.5(PRSS1):c.701A>T (p.Asn234Ile)
NM_002769.5(PRSS1):c.706G>A (p.Val236Met)
NM_002769.5(PRSS1):c.707T>A (p.Val236Glu)
NM_002769.5(PRSS1):c.712T>C (p.Trp238Arg)
NM_002769.5(PRSS1):c.718A>G (p.Lys240Glu)
NM_002769.5(PRSS1):c.71T>A (p.Ile24Asn)
NM_002769.5(PRSS1):c.725C>G (p.Thr242Ser)
NM_002769.5(PRSS1):c.725C>T (p.Thr242Ile)
NM_002769.5(PRSS1):c.731C>T (p.Ala244Val)
NM_002769.5(PRSS1):c.734C>T (p.Ala245Val) rs1798882939
NM_002769.5(PRSS1):c.738T>G (p.Asn246Lys)
NM_002769.5(PRSS1):c.739A>G (p.Ser247Gly)
NM_002769.5(PRSS1):c.73G>C (p.Val25Leu)
NM_002769.5(PRSS1):c.73G>T (p.Val25Phe)
NM_002769.5(PRSS1):c.740G>T (p.Ser247Ile)
NM_002769.5(PRSS1):c.74T>C (p.Val25Ala)
NM_002769.5(PRSS1):c.77G>A (p.Gly26Glu)
NM_002769.5(PRSS1):c.82T>G (p.Tyr28Asp) rs1405433158
NM_002769.5(PRSS1):c.86A>G (p.Asn29Ser)
NM_002769.5(PRSS1):c.87C>G (p.Asn29Lys) rs747010881
NM_002769.5(PRSS1):c.88T>A (p.Cys30Ser)
NM_002769.5(PRSS1):c.91GAG[1] (p.Glu32del) rs1317719683
NM_002769.5(PRSS1):c.92A>T (p.Glu31Val)
NM_002769.5(PRSS1):c.95A>G (p.Glu32Gly)
NM_002769.5(PRSS1):c.98A>C (p.Asn33Thr)

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