ClinVar Miner

List of variants in gene PRKCSH studied for not provided

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Gene type:
ClinVar version:
Total variants: 284
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HGVS dbSNP gnomAD frequency
NM_001289104.2(PRKCSH):c.850-14T>C rs186375 0.99255
NM_001289104.2(PRKCSH):c.849+77T>C rs160840 0.18998
NM_001289104.2(PRKCSH):c.871G>A (p.Ala291Thr) rs11557488 0.17152
NM_001289104.2(PRKCSH):c.763-192T>C rs160839 0.16566
NM_001289104.2(PRKCSH):c.1196+52A>G rs160841 0.16150
NM_001289104.2(PRKCSH):c.*185T>C rs8616 0.15997
NM_001289104.2(PRKCSH):c.196+180C>T rs56015835 0.10359
NM_001289104.2(PRKCSH):c.*16+104T>G rs755000 0.07276
NM_001289104.2(PRKCSH):c.1286+45C>T rs45626947 0.06267
NM_001289104.2(PRKCSH):c.763-176C>T rs2302973 0.05183
NM_001289104.2(PRKCSH):c.1029+18A>G rs111813645 0.03420
NM_001289104.2(PRKCSH):c.599-73C>T rs62131153 0.03402
NM_001289104.2(PRKCSH):c.1287-33G>A rs1971206 0.02536
NM_001289104.2(PRKCSH):c.468+297G>A rs79208676 0.02491
NM_001289104.2(PRKCSH):c.1126+98G>C rs112532469 0.01774
NM_001289104.2(PRKCSH):c.850-106G>A rs113164089 0.01259
NM_001289104.2(PRKCSH):c.*16+48C>T rs116661598 0.00924
NM_001289104.2(PRKCSH):c.1030-37G>A rs148197108 0.00881
NM_001289104.2(PRKCSH):c.469-191C>T rs115878914 0.00789
NM_001289104.2(PRKCSH):c.468+296G>C rs115220118 0.00788
NM_001289104.2(PRKCSH):c.197-65G>A rs145783420 0.00719
NM_001289104.2(PRKCSH):c.197-23C>A rs116484437 0.00705
NM_001289104.2(PRKCSH):c.684-288G>T rs186111997 0.00688
NM_001289104.2(PRKCSH):c.351-5C>T rs76485217 0.00604
NM_001289104.2(PRKCSH):c.1359T>C (p.Leu453=) rs139144555 0.00596
NM_001289104.2(PRKCSH):c.762+216C>T rs138247117 0.00570
NM_001289104.2(PRKCSH):c.549T>C (p.Ala183=) rs62638749 0.00518
NM_001289104.2(PRKCSH):c.1286+14A>G rs150798392 0.00514
NM_001289104.2(PRKCSH):c.1378A>G (p.Ile460Val) rs34351170 0.00513
NM_001289104.2(PRKCSH):c.350+10T>C rs188406927 0.00499
NM_001289104.2(PRKCSH):c.196+129A>C rs73922655 0.00436
NM_001289104.2(PRKCSH):c.469-10G>A rs188022793 0.00354
NM_001289104.2(PRKCSH):c.468+106C>T rs116174381 0.00344
NM_001289104.2(PRKCSH):c.80-7C>G rs189520103 0.00155
NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His) rs139991238 0.00137
NM_001289104.2(PRKCSH):c.807C>T (p.Tyr269=) rs201337319 0.00125
NM_001289104.2(PRKCSH):c.976G>A (p.Ala326Thr) rs140014863 0.00110
NM_001289104.2(PRKCSH):c.822C>T (p.Ala274=) rs112495629 0.00096
NM_001289104.2(PRKCSH):c.834C>T (p.Asp278=) rs139969239 0.00077
NM_001289104.2(PRKCSH):c.176A>G (p.Lys59Arg) rs112718886 0.00076
NM_001289104.2(PRKCSH):c.1092G>A (p.Pro364=) rs142347308 0.00066
NM_001289104.2(PRKCSH):c.1055C>T (p.Pro352Leu) rs201537803 0.00057
NM_001289104.2(PRKCSH):c.454C>T (p.Arg152Trp) rs151207349 0.00057
NM_001289104.2(PRKCSH):c.1291G>A (p.Val431Ile) rs368655107 0.00054
NM_001289104.2(PRKCSH):c.438G>A (p.Glu146=) rs143369158 0.00053
NM_001289104.2(PRKCSH):c.930G>A (p.Ser310=) rs147897290 0.00049
NM_001289104.2(PRKCSH):c.628G>A (p.Glu210Lys) rs200168017 0.00039
NM_001289104.2(PRKCSH):c.1292T>C (p.Val431Ala) rs143784110 0.00035
NM_001289104.2(PRKCSH):c.751G>T (p.Ala251Ser) rs147043213 0.00035
NM_001289104.2(PRKCSH):c.862G>A (p.Asp288Asn) rs144616910 0.00026
NM_001289104.2(PRKCSH):c.1260C>T (p.Ser420=) rs201787445 0.00025
NM_001289104.2(PRKCSH):c.345C>T (p.Thr115=) rs771831721 0.00024
NM_001289104.2(PRKCSH):c.823G>A (p.Ala275Thr) rs142339453 0.00023
NM_001289104.2(PRKCSH):c.841C>T (p.Arg281Trp) rs746231889 0.00022
NM_001289104.2(PRKCSH):c.1559C>T (p.Pro520Leu) rs139214550 0.00017
NM_001289104.2(PRKCSH):c.795C>T (p.Ala265=) rs367810294 0.00017
NM_001289104.2(PRKCSH):c.969A>G (p.Glu323=) rs745841943 0.00017
NM_001289104.2(PRKCSH):c.1040C>T (p.Pro347Leu) rs1126648 0.00016
NM_001289104.2(PRKCSH):c.792C>T (p.Asp264=) rs202169733 0.00014
NM_001289104.2(PRKCSH):c.1283A>C (p.Asn428Thr) rs34318718 0.00013
NM_001289104.2(PRKCSH):c.1392C>T (p.His464=) rs200928002 0.00013
NM_001289104.2(PRKCSH):c.752C>T (p.Ala251Val) rs138530475 0.00013
NM_001289104.2(PRKCSH):c.112A>G (p.Thr38Ala) rs547919069 0.00011
NM_001289104.2(PRKCSH):c.690G>A (p.Ser230=) rs373431632 0.00010
NM_001289104.2(PRKCSH):c.1343G>A (p.Gly448Asp) rs201614230 0.00008
NM_001289104.2(PRKCSH):c.1476C>T (p.Cys492=) rs770480368 0.00008
NM_001289104.2(PRKCSH):c.1536G>A (p.Glu512=) rs374970694 0.00008
NM_001289104.2(PRKCSH):c.468+11C>T rs373806462 0.00008
NM_001289104.2(PRKCSH):c.762+2T>C rs112915100 0.00008
NM_001289104.2(PRKCSH):c.251C>T (p.Pro84Leu) rs370857637 0.00007
NM_001289104.2(PRKCSH):c.279C>T (p.Asn93=) rs777837737 0.00007
NM_001289104.2(PRKCSH):c.850-12C>T rs201874863 0.00007
NM_001289104.2(PRKCSH):c.1590C>T (p.Asp530=) rs147203239 0.00006
NM_001289104.2(PRKCSH):c.543G>C (p.Glu181Asp) rs370840119 0.00006
NM_001289104.2(PRKCSH):c.683+9C>A rs367735502 0.00006
NM_001289104.2(PRKCSH):c.1384C>T (p.Pro462Ser) rs866469235 0.00004
NM_001289104.2(PRKCSH):c.351-10C>T rs200263708 0.00004
NM_001289104.2(PRKCSH):c.627G>T (p.Gln209His) rs775259637 0.00004
NM_001289104.2(PRKCSH):c.683C>T (p.Thr228Met) rs149787198 0.00004
NM_001289104.2(PRKCSH):c.914C>T (p.Pro305Leu) rs201385707 0.00004
NM_001289104.2(PRKCSH):c.1099G>A (p.Asp367Asn) rs764376521 0.00002
NM_001289104.2(PRKCSH):c.684-11C>T rs758676260 0.00002
NM_001289104.2(PRKCSH):c.975G>A (p.Glu325=) rs775357974 0.00002
NM_001289104.2(PRKCSH):c.1005C>T (p.Ser335=) rs145740877 0.00001
NM_001289104.2(PRKCSH):c.1127-19C>T rs563345367 0.00001
NM_001289104.2(PRKCSH):c.1197-14G>A rs141301073 0.00001
NM_001289104.2(PRKCSH):c.1462-20A>G rs1327973337 0.00001
NM_001289104.2(PRKCSH):c.1534G>T (p.Glu512Ter) rs398123688 0.00001
NM_001289104.2(PRKCSH):c.324C>T (p.Ser108=) rs368596083 0.00001
NM_001289104.2(PRKCSH):c.741G>A (p.Ala247=) rs199915126 0.00001
NM_001289104.2(PRKCSH):c.763-5C>T rs377653060 0.00001
NM_001289104.2(PRKCSH):c.79+1G>C rs1160514064 0.00001
NM_001289104.2(PRKCSH):c.966G>A (p.Glu322=) rs77563879 0.00001
NM_001289104.2(PRKCSH):c.96T>G (p.Asp32Glu) rs778138658 0.00001
NM_001289104.2(PRKCSH):c.1009G>A (p.Val337Met)
NM_001289104.2(PRKCSH):c.1020G>A (p.Glu340=)
NM_001289104.2(PRKCSH):c.1022A>G (p.Gln341Arg)
NM_001289104.2(PRKCSH):c.1030-20_1030-17del rs571579506
NM_001289104.2(PRKCSH):c.1032G>A (p.Glu344=)
NM_001289104.2(PRKCSH):c.1061C>T (p.Pro354Leu)
NM_001289104.2(PRKCSH):c.1071T>C (p.Pro357=)
NM_001289104.2(PRKCSH):c.107C>T (p.Pro36Leu)
NM_001289104.2(PRKCSH):c.1083C>G (p.Asp361Glu)
NM_001289104.2(PRKCSH):c.1098CGA[1] (p.Asp367del)
NM_001289104.2(PRKCSH):c.1110G>A (p.Thr370=)
NM_001289104.2(PRKCSH):c.1122C>G (p.Ile374Met)
NM_001289104.2(PRKCSH):c.1123G>A (p.Asp375Asn)
NM_001289104.2(PRKCSH):c.1126+14G>A
NM_001289104.2(PRKCSH):c.1127-4C>G
NM_001289104.2(PRKCSH):c.1139C>G (p.Ala380Gly)
NM_001289104.2(PRKCSH):c.1144A>G (p.Asn382Asp)
NM_001289104.2(PRKCSH):c.1165C>T (p.Arg389Trp)
NM_001289104.2(PRKCSH):c.1166G>A (p.Arg389Gln)
NM_001289104.2(PRKCSH):c.1169C>T (p.Ser390Leu)
NM_001289104.2(PRKCSH):c.1170G>A (p.Ser390=)
NM_001289104.2(PRKCSH):c.1176G>A (p.Lys392=)
NM_001289104.2(PRKCSH):c.118C>A (p.Leu40Met)
NM_001289104.2(PRKCSH):c.1196+19dup
NM_001289104.2(PRKCSH):c.1196+20G>C
NM_001289104.2(PRKCSH):c.1197-15C>T
NM_001289104.2(PRKCSH):c.1197-17T>C
NM_001289104.2(PRKCSH):c.1197-19G>A
NM_001289104.2(PRKCSH):c.1197-19G>T
NM_001289104.2(PRKCSH):c.1197-20C>T
NM_001289104.2(PRKCSH):c.1220T>G (p.Phe407Cys)
NM_001289104.2(PRKCSH):c.1232C>T (p.Pro411Leu)
NM_001289104.2(PRKCSH):c.1235A>G (p.Asn412Ser)
NM_001289104.2(PRKCSH):c.1236C>T (p.Asn412=)
NM_001289104.2(PRKCSH):c.123C>A (p.Asp41Glu)
NM_001289104.2(PRKCSH):c.1241A>C (p.Glu414Ala)
NM_001289104.2(PRKCSH):c.124G>A (p.Gly42Ser)
NM_001289104.2(PRKCSH):c.1252C>T (p.Leu418=)
NM_001289104.2(PRKCSH):c.1263G>C (p.Gln421His)
NM_001289104.2(PRKCSH):c.1281C>G (p.Thr427=) rs1970438676
NM_001289104.2(PRKCSH):c.1285G>T (p.Glu429Ter)
NM_001289104.2(PRKCSH):c.1286+17C>T
NM_001289104.2(PRKCSH):c.1286+4C>T
NM_001289104.2(PRKCSH):c.1287-12G>A
NM_001289104.2(PRKCSH):c.1287-13C>T
NM_001289104.2(PRKCSH):c.1289dup (p.Tyr430Ter)
NM_001289104.2(PRKCSH):c.1290C>G (p.Tyr430Ter) rs121918520
NM_001289104.2(PRKCSH):c.1290C>T (p.Tyr430=)
NM_001289104.2(PRKCSH):c.1297C>T (p.Arg433Cys)
NM_001289104.2(PRKCSH):c.1323G>A (p.Ser441=)
NM_001289104.2(PRKCSH):c.1338C>T (p.Leu446=) rs540593191
NM_001289104.2(PRKCSH):c.1339G>A (p.Gly447Arg)
NM_001289104.2(PRKCSH):c.133A>G (p.Thr45Ala)
NM_001289104.2(PRKCSH):c.1356C>T (p.Ser452=)
NM_001289104.2(PRKCSH):c.1361+16T>G
NM_001289104.2(PRKCSH):c.1362-10TC[2] rs1435711003
NM_001289104.2(PRKCSH):c.1365C>T (p.Thr455=)
NM_001289104.2(PRKCSH):c.136A>T (p.Ile46Phe)
NM_001289104.2(PRKCSH):c.1386C>T (p.Pro462=)
NM_001289104.2(PRKCSH):c.1387G>A (p.Asp463Asn)
NM_001289104.2(PRKCSH):c.1393G>A (p.Asp465Asn)
NM_001289104.2(PRKCSH):c.1407C>T (p.Ala469=)
NM_001289104.2(PRKCSH):c.1411A>G (p.Lys471Glu) rs1970467790
NM_001289104.2(PRKCSH):c.1412A>C (p.Lys471Thr)
NM_001289104.2(PRKCSH):c.1427C>G (p.Thr476Arg)
NM_001289104.2(PRKCSH):c.1458C>T (p.Thr486=)
NM_001289104.2(PRKCSH):c.1461+1G>A
NM_001289104.2(PRKCSH):c.1461+20G>T
NM_001289104.2(PRKCSH):c.1461+22G>T rs191571650
NM_001289104.2(PRKCSH):c.1461+23A>T rs146086973
NM_001289104.2(PRKCSH):c.1461+2T>C
NM_001289104.2(PRKCSH):c.1462-16G>A
NM_001289104.2(PRKCSH):c.1462-18C>A
NM_001289104.2(PRKCSH):c.1462-18C>G
NM_001289104.2(PRKCSH):c.1462-3dup
NM_001289104.2(PRKCSH):c.1462-8A>G
NM_001289104.2(PRKCSH):c.1462-9del
NM_001289104.2(PRKCSH):c.1467_1477del (p.Leu490fs)
NM_001289104.2(PRKCSH):c.1481_1484del (p.Lys494fs) rs794727187
NM_001289104.2(PRKCSH):c.1489A>G (p.Met497Val)
NM_001289104.2(PRKCSH):c.1521C>T (p.Cys507=)
NM_001289104.2(PRKCSH):c.1545G>A (p.Thr515=)
NM_001289104.2(PRKCSH):c.1551C>T (p.Ala517=)
NM_001289104.2(PRKCSH):c.1554C>T (p.Ala518=)
NM_001289104.2(PRKCSH):c.1569G>A (p.Pro523=)
NM_001289104.2(PRKCSH):c.1569G>T (p.Pro523=) rs149505716
NM_001289104.2(PRKCSH):c.1584C>T (p.Thr528=)
NM_001289104.2(PRKCSH):c.192G>A (p.Glu64=)
NM_001289104.2(PRKCSH):c.197-11C>T
NM_001289104.2(PRKCSH):c.197-8C>T
NM_001289104.2(PRKCSH):c.201G>C (p.Thr67=)
NM_001289104.2(PRKCSH):c.219C>T (p.Gly73=)
NM_001289104.2(PRKCSH):c.237C>T (p.Asn79=)
NM_001289104.2(PRKCSH):c.249G>T (p.Lys83Asn)
NM_001289104.2(PRKCSH):c.261C>T (p.Ile87=)
NM_001289104.2(PRKCSH):c.288T>C (p.Val96=)
NM_001289104.2(PRKCSH):c.292+16C>T
NM_001289104.2(PRKCSH):c.292+2dup
NM_001289104.2(PRKCSH):c.293-9C>T
NM_001289104.2(PRKCSH):c.312C>T (p.Asp104=)
NM_001289104.2(PRKCSH):c.324C>A (p.Ser108Arg)
NM_001289104.2(PRKCSH):c.325G>A (p.Gly109Ser)
NM_001289104.2(PRKCSH):c.327C>T (p.Gly109=) rs766039060
NM_001289104.2(PRKCSH):c.339G>C (p.Glu113Asp)
NM_001289104.2(PRKCSH):c.349A>C (p.Lys117Gln)
NM_001289104.2(PRKCSH):c.350+4C>T
NM_001289104.2(PRKCSH):c.350+5G>A
NM_001289104.2(PRKCSH):c.351-20TG[2]
NM_001289104.2(PRKCSH):c.351-2A>G
NM_001289104.2(PRKCSH):c.351-4G>A
NM_001289104.2(PRKCSH):c.353dup (p.Lys119fs) rs1970047024
NM_001289104.2(PRKCSH):c.361C>T (p.Arg121Cys)
NM_001289104.2(PRKCSH):c.362G>A (p.Arg121His) rs377537927
NM_001289104.2(PRKCSH):c.372A>G (p.Arg124=)
NM_001289104.2(PRKCSH):c.372_375del (p.Arg124fs)
NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs) rs779685748
NM_001289104.2(PRKCSH):c.388A>C (p.Met130Leu)
NM_001289104.2(PRKCSH):c.405C>T (p.Arg135=) rs746346745
NM_001289104.2(PRKCSH):c.468+12G>T
NM_001289104.2(PRKCSH):c.469-117T>G rs114634588
NM_001289104.2(PRKCSH):c.469-16C>G
NM_001289104.2(PRKCSH):c.469-291=
NM_001289104.2(PRKCSH):c.481G>T (p.Glu161Ter)
NM_001289104.2(PRKCSH):c.504T>C (p.Ser168=)
NM_001289104.2(PRKCSH):c.555G>A (p.Lys185=)
NM_001289104.2(PRKCSH):c.588G>T (p.Lys196Asn) rs760381469
NM_001289104.2(PRKCSH):c.598+4T>C
NM_001289104.2(PRKCSH):c.641C>T (p.Ala214Val)
NM_001289104.2(PRKCSH):c.642G>A (p.Ala214=)
NM_001289104.2(PRKCSH):c.659A>G (p.Glu220Gly)
NM_001289104.2(PRKCSH):c.681G>C (p.Gly227=) rs1599500151
NM_001289104.2(PRKCSH):c.683+14A>C
NM_001289104.2(PRKCSH):c.683+19G>T
NM_001289104.2(PRKCSH):c.684G>A (p.Thr228=)
NM_001289104.2(PRKCSH):c.689C>T (p.Ser230Leu)
NM_001289104.2(PRKCSH):c.713C>T (p.Pro238Leu)
NM_001289104.2(PRKCSH):c.730G>A (p.Gly244Arg) rs762328328
NM_001289104.2(PRKCSH):c.740C>G (p.Ala247Gly)
NM_001289104.2(PRKCSH):c.762+4C>T
NM_001289104.2(PRKCSH):c.762+75dup rs35753565
NM_001289104.2(PRKCSH):c.762+8C>T
NM_001289104.2(PRKCSH):c.762+9G>A
NM_001289104.2(PRKCSH):c.763-235TC[2] rs143354843
NM_001289104.2(PRKCSH):c.778G>A (p.Asp260Asn)
NM_001289104.2(PRKCSH):c.79+10_79+12del rs143936796
NM_001289104.2(PRKCSH):c.79+12_79+23dup rs146514973
NM_001289104.2(PRKCSH):c.80-11G>A
NM_001289104.2(PRKCSH):c.80-8C>T
NM_001289104.2(PRKCSH):c.809A>G (p.Asp270Gly) rs141530441
NM_001289104.2(PRKCSH):c.809A>T (p.Asp270Val) rs141530441
NM_001289104.2(PRKCSH):c.811C>T (p.Arg271Cys)
NM_001289104.2(PRKCSH):c.812G>A (p.Arg271His)
NM_001289104.2(PRKCSH):c.813C>T (p.Arg271=)
NM_001289104.2(PRKCSH):c.821_832del (p.Ala274_Arg277del)
NM_001289104.2(PRKCSH):c.82C>T (p.His28Tyr) rs149258999
NM_001289104.2(PRKCSH):c.840C>T (p.Tyr280=)
NM_001289104.2(PRKCSH):c.849+55C>A rs115583278
NM_001289104.2(PRKCSH):c.850-14_850-13inv
NM_001289104.2(PRKCSH):c.850-18G>A
NM_001289104.2(PRKCSH):c.850-6C>T
NM_001289104.2(PRKCSH):c.861C>T (p.Thr287=)
NM_001289104.2(PRKCSH):c.865C>T (p.Leu289Phe)
NM_001289104.2(PRKCSH):c.878C>T (p.Ser293Phe)
NM_001289104.2(PRKCSH):c.893C>T (p.Thr298Met)
NM_001289104.2(PRKCSH):c.903G>A (p.Lys301=)
NM_001289104.2(PRKCSH):c.917C>T (p.Pro306Leu)
NM_001289104.2(PRKCSH):c.920T>C (p.Val307Ala)
NM_001289104.2(PRKCSH):c.927G>A (p.Ser309=)
NM_001289104.2(PRKCSH):c.935C>G (p.Thr312Arg)
NM_001289104.2(PRKCSH):c.936A>G (p.Thr312=)
NM_001289104.2(PRKCSH):c.936_938del (p.Glu325del)
NM_001289104.2(PRKCSH):c.939GGA[11] (p.Glu325dup) rs3217229
NM_001289104.2(PRKCSH):c.939GGA[12] (p.Glu325_Ala326insGluGlu)
NM_001289104.2(PRKCSH):c.939GGA[13] (p.Glu323_Glu325dup) rs3217229
NM_001289104.2(PRKCSH):c.939GGA[5] (p.Glu321_Glu325del)
NM_001289104.2(PRKCSH):c.939GGA[6] (p.Glu322_Glu325del)
NM_001289104.2(PRKCSH):c.939GGA[7] (p.Glu323_Glu325del) rs3217229
NM_001289104.2(PRKCSH):c.939GGA[8] (p.Glu324_Glu325del) rs3217229
NM_001289104.2(PRKCSH):c.939GGA[9] (p.Glu325del) rs3217229
NM_001289104.2(PRKCSH):c.941A>G (p.Glu314Gly)
NM_001289104.2(PRKCSH):c.951_1001dup (p.Glu333_Asp334insGluGluGluGluGluGluGluGluGluAlaGluGluGluGluGluGluGlu)
NM_001289104.2(PRKCSH):c.960_1001del (p.Glu320_Glu333del)
NM_001289104.2(PRKCSH):c.969AGA[1] (p.Glu325del)
NM_001289104.2(PRKCSH):c.977_988del (p.Ala326_Glu329del)
NM_001289104.2(PRKCSH):c.977_988dup (p.Glu329_Glu330insAlaGluGluGlu)
NM_001289104.2(PRKCSH):c.987GGA[3] (p.Glu332_Glu333del)
NM_001289104.2(PRKCSH):c.987GGA[4] (p.Glu333del) rs763059069
NM_001289104.2(PRKCSH):c.987GGA[6] (p.Glu333dup) rs763059069
NM_001289104.2(PRKCSH):c.988G>A (p.Glu330Lys) rs1397015529
NM_002743.3(PRKCSH):c.263C>T (p.Pro88Leu) rs2144807966

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