ClinVar Miner

List of variants in gene PCCA reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 286
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HGVS dbSNP
NC_000013.10:g.(?_100861566)_(100861737_?)del
NC_000013.10:g.(?_100953694)_(100962182_?)dup
NC_000013.10:g.(?_100953694)_(101078005_?)del
NC_000013.10:g.(?_101020716)_(101101569_?)del
NC_000013.11:g.(?_100111821)_(100112081_?)del
NC_000013.11:g.(?_100111831)_(100112071_?)del
NC_000013.11:g.(?_100154969)_(100273356_?)del
NC_000013.11:g.(?_100209322)_(100235888_?)del
NC_000013.11:g.(?_100268679)_(100268793_?)del
NC_000013.11:g.(?_100301450)_(100425741_?)del
NC_000013.11:g.(?_100330541)_(100368594_?)del
NC_000013.11:g.(?_100425613)_(100425751_?)del
NC_000013.11:g.(?_100449242)_(100491683_?)del
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872
NM_000282.4(PCCA):c.1007A>G (p.Glu336Gly)
NM_000282.4(PCCA):c.1020C>T (p.Asp340=)
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter) rs398123297
NM_000282.4(PCCA):c.105+1G>A rs879253804
NM_000282.4(PCCA):c.106-10T>C
NM_000282.4(PCCA):c.106-1G>A
NM_000282.4(PCCA):c.1065+1G>C
NM_000282.4(PCCA):c.1065+3AAC[2]
NM_000282.4(PCCA):c.1065+5C>T rs201597816
NM_000282.4(PCCA):c.1066-10G>C
NM_000282.4(PCCA):c.1071G>A (p.Glu357=)
NM_000282.4(PCCA):c.1089C>T (p.Cys363=) rs766934571
NM_000282.4(PCCA):c.1099C>T (p.Leu367=)
NM_000282.4(PCCA):c.1113G>A (p.Gln371=)
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys) rs121964958
NM_000282.4(PCCA):c.1131T>G (p.Ala377=) rs754991015
NM_000282.4(PCCA):c.1164T>C (p.Asp388=)
NM_000282.4(PCCA):c.1176C>T (p.Asn392=) rs138597181
NM_000282.4(PCCA):c.1181G>A (p.Trp394Ter)
NM_000282.4(PCCA):c.1189G>T (p.Glu397Ter)
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser) rs149293297
NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp) rs1234167788
NM_000282.4(PCCA):c.1209+10A>G
NM_000282.4(PCCA):c.1221G>A (p.Lys407=)
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120
NM_000282.4(PCCA):c.1249T>C (p.Leu417=)
NM_000282.4(PCCA):c.1257G>A (p.Gln419=) rs147839487
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu) rs1443858896
NM_000282.4(PCCA):c.126A>G (p.Arg42=)
NM_000282.4(PCCA):c.1275T>G (p.His425Gln)
NM_000282.4(PCCA):c.1284+1G>A rs752761437
NM_000282.4(PCCA):c.1285-10T>C
NM_000282.4(PCCA):c.1285-12_1285-8del
NM_000282.4(PCCA):c.1285-13_1285-6del
NM_000282.4(PCCA):c.1285-4C>T rs372262089
NM_000282.4(PCCA):c.1285-5C>T
NM_000282.4(PCCA):c.1285-7dup
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)
NM_000282.4(PCCA):c.12C>T (p.Phe4=)
NM_000282.4(PCCA):c.1312G>T (p.Gly438Ter)
NM_000282.4(PCCA):c.1326C>T (p.Ser442=)
NM_000282.4(PCCA):c.1342A>G (p.Met448Val) rs767060690
NM_000282.4(PCCA):c.1350A>G (p.Ser450=) rs755614638
NM_000282.4(PCCA):c.1353+10A>C rs1595236362
NM_000282.4(PCCA):c.1354-10T>C
NM_000282.4(PCCA):c.1354-8G>T rs1375878402
NM_000282.4(PCCA):c.1392G>A (p.Lys464=)
NM_000282.4(PCCA):c.1408C>T (p.Leu470=) rs1566911871
NM_000282.4(PCCA):c.1419T>C (p.Tyr473=)
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749
NM_000282.4(PCCA):c.1429+18C>T
NM_000282.4(PCCA):c.1429+7A>G rs16957276
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907
NM_000282.4(PCCA):c.1437A>G (p.Thr479=) rs1224037636
NM_000282.4(PCCA):c.1455T>C (p.Leu485=)
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) rs148651921
NM_000282.4(PCCA):c.145del (p.Arg49fs)
NM_000282.4(PCCA):c.1491A>G (p.Gly497=) rs965243149
NM_000282.4(PCCA):c.1515C>T (p.Ser505=) rs201162791
NM_000282.4(PCCA):c.1518T>C (p.Asp506=)
NM_000282.4(PCCA):c.1519G>A (p.Val507Met)
NM_000282.4(PCCA):c.1540+7A>G
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881
NM_000282.4(PCCA):c.1561G>T (p.Glu521Ter)
NM_000282.4(PCCA):c.1576T>C (p.Leu526=) rs564315582
NM_000282.4(PCCA):c.1590A>G (p.Ser530=)
NM_000282.4(PCCA):c.1593A>G (p.Ser531=)
NM_000282.4(PCCA):c.1598_1601del (p.Phe533fs)
NM_000282.4(PCCA):c.1599T>C (p.Phe533=)
NM_000282.4(PCCA):c.1620A>G (p.Ala540=)
NM_000282.4(PCCA):c.1643+8_1643+13del
NM_000282.4(PCCA):c.1644-9C>T
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile)
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895
NM_000282.4(PCCA):c.1659A>G (p.Lys553=) rs764395477
NM_000282.4(PCCA):c.1665C>T (p.Asp555=)
NM_000282.4(PCCA):c.1671C>G (p.Ala557=)
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.1713C>T (p.Thr571=) rs778536273
NM_000282.4(PCCA):c.1731T>C (p.Asn577=)
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356
NM_000282.4(PCCA):c.1747-8dup
NM_000282.4(PCCA):c.1773T>C (p.Asn591=)
NM_000282.4(PCCA):c.177T>A (p.Asn59Lys)
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) rs776496862
NM_000282.4(PCCA):c.1791C>T (p.Asn597=)
NM_000282.4(PCCA):c.1800G>A (p.Ser600=)
NM_000282.4(PCCA):c.1800G>T (p.Ser600=)
NM_000282.4(PCCA):c.1807T>C (p.Leu603=)
NM_000282.4(PCCA):c.1818C>T (p.Ser606=)
NM_000282.4(PCCA):c.1824T>C (p.Asp608=)
NM_000282.4(PCCA):c.183+1G>A
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.183+7A>G
NM_000282.4(PCCA):c.183+9T>G
NM_000282.4(PCCA):c.184-10C>T
NM_000282.4(PCCA):c.184-17_184-16del rs111778723
NM_000282.4(PCCA):c.184-5T>C
NM_000282.4(PCCA):c.184-6C>T rs542777393
NM_000282.4(PCCA):c.1845+10585T>C
NM_000282.4(PCCA):c.1845+10G>T
NM_000282.4(PCCA):c.1846-1G>T
NM_000282.4(PCCA):c.1846-9G>T rs141118743
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272
NM_000282.4(PCCA):c.1884G>A (p.Gln628=) rs552141237
NM_000282.4(PCCA):c.1886T>G (p.Phe629Cys)
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg) rs796052018
NM_000282.4(PCCA):c.1896A>C (p.Thr632=)
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000282.4(PCCA):c.1899+7A>G rs950344042
NM_000282.4(PCCA):c.18C>T (p.Val6=)
NM_000282.4(PCCA):c.1915T>C (p.Leu639=)
NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser) rs1594099709
NM_000282.4(PCCA):c.1929C>T (p.Ala643=) rs772945583
NM_000282.4(PCCA):c.1933G>A (p.Glu645Lys)
NM_000282.4(PCCA):c.1951C>T (p.Leu651=)
NM_000282.4(PCCA):c.1962G>A (p.Val654=)
NM_000282.4(PCCA):c.1980T>C (p.Ser660=) rs751989323
NM_000282.4(PCCA):c.1988G>A (p.Arg663His)
NM_000282.4(PCCA):c.1995G>A (p.Pro665=)
NM_000282.4(PCCA):c.2001C>T (p.Pro667=) rs778845861
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170
NM_000282.4(PCCA):c.2007G>C (p.Val669=)
NM_000282.4(PCCA):c.2016C>A (p.Ala672=)
NM_000282.4(PCCA):c.2016C>T (p.Ala672=) rs773033856
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu) rs142646074
NM_000282.4(PCCA):c.2027del (p.Lys676fs) rs1555327702
NM_000282.4(PCCA):c.202G>A (p.Val68Ile) rs768750176
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931
NM_000282.4(PCCA):c.2040+9TG[3]
NM_000282.4(PCCA):c.2041-1G>T rs1367867218
NM_000282.4(PCCA):c.2041-2A>G rs776281864
NM_000282.4(PCCA):c.2041-8T>C
NM_000282.4(PCCA):c.2043A>G (p.Val681=)
NM_000282.4(PCCA):c.2055A>G (p.Gln685=) rs147568036
NM_000282.4(PCCA):c.2100A>G (p.Thr700=)
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro)
NM_000282.4(PCCA):c.2112T>C (p.Thr704=)
NM_000282.4(PCCA):c.2118+10T>C
NM_000282.4(PCCA):c.2119-9A>G rs1389933015
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs) rs1317003529
NM_000282.4(PCCA):c.2136T>C (p.Cys712=)
NM_000282.4(PCCA):c.2155G>A (p.Gly719Arg)
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs) rs749875940
NM_000282.4(PCCA):c.2167C>T (p.Leu723=)
NM_000282.4(PCCA):c.2169G>A (p.Leu723=) rs371113202
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306
NM_000282.4(PCCA):c.231+15C>T rs202049874
NM_000282.4(PCCA):c.231+1G>C rs972937270
NM_000282.4(PCCA):c.231+47_231+50del rs147037340
NM_000282.4(PCCA):c.231+8G>A rs199996461
NM_000282.4(PCCA):c.231+9_231+13del
NM_000282.4(PCCA):c.232-2A>G
NM_000282.4(PCCA):c.232-2A>T
NM_000282.4(PCCA):c.232-6A>T
NM_000282.4(PCCA):c.24A>G (p.Thr8=) rs117397004
NM_000282.4(PCCA):c.24A>T (p.Thr8=) rs117397004
NM_000282.4(PCCA):c.24_46dup (p.Arg16fs) rs999936193
NM_000282.4(PCCA):c.267A>G (p.Thr89=)
NM_000282.4(PCCA):c.273C>T (p.Ala91=)
NM_000282.4(PCCA):c.279C>T (p.His93=)
NM_000282.4(PCCA):c.287T>C (p.Val96Ala)
NM_000282.4(PCCA):c.2T>C (p.Met1Thr) rs372093520
NM_000282.4(PCCA):c.300+7A>G
NM_000282.4(PCCA):c.306T>C (p.His102=)
NM_000282.4(PCCA):c.327T>C (p.Ala109=)
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587
NM_000282.4(PCCA):c.33G>A (p.Leu11=)
NM_000282.4(PCCA):c.33G>T (p.Leu11=) rs922002208
NM_000282.4(PCCA):c.366C>T (p.Leu122=)
NM_000282.4(PCCA):c.36C>T (p.Val12=) rs375516917
NM_000282.4(PCCA):c.396G>A (p.Lys132=)
NM_000282.4(PCCA):c.414+7C>G rs1051098122
NM_000282.4(PCCA):c.415-10C>T
NM_000282.4(PCCA):c.415-9A>G rs1057520932
NM_000282.4(PCCA):c.415G>A (p.Val139Ile)
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.42C>G (p.Ala14=)
NM_000282.4(PCCA):c.42C>T (p.Ala14=) rs200714802
NM_000282.4(PCCA):c.432A>G (p.Gly144=) rs768756825
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter)
NM_000282.4(PCCA):c.468+11A>C rs187554010
NM_000282.4(PCCA):c.468+8G>A
NM_000282.4(PCCA):c.483C>T (p.Val161=)
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612
NM_000282.4(PCCA):c.506dup (p.His169fs)
NM_000282.4(PCCA):c.522G>A (p.Met174Ile) rs780406346
NM_000282.4(PCCA):c.525C>T (p.Gly175=) rs151168308
NM_000282.4(PCCA):c.54G>A (p.Gly18=) rs1373903905
NM_000282.4(PCCA):c.556A>T (p.Lys186Ter)
NM_000282.4(PCCA):c.564G>A (p.Glu188=) rs1594744855
NM_000282.4(PCCA):c.567T>C (p.Val189=) rs773301690
NM_000282.4(PCCA):c.570T>C (p.Asn190=)
NM_000282.4(PCCA):c.590G>C (p.Gly197Ala) rs766245108
NM_000282.4(PCCA):c.601-10G>A rs903647084
NM_000282.4(PCCA):c.603T>C (p.Asp201=)
NM_000282.4(PCCA):c.606A>G (p.Ala202=)
NM_000282.4(PCCA):c.612A>G (p.Glu204=) rs1594860188
NM_000282.4(PCCA):c.615dup (p.Val206fs) rs1566767338
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229
NM_000282.4(PCCA):c.637+1G>A
NM_000282.4(PCCA):c.637+2T>A
NM_000282.4(PCCA):c.638-10C>T
NM_000282.4(PCCA):c.638-5G>A
NM_000282.4(PCCA):c.638-5G>T
NM_000282.4(PCCA):c.638-7C>T
NM_000282.4(PCCA):c.645T>A (p.Pro215=)
NM_000282.4(PCCA):c.645T>G (p.Pro215=) rs751840442
NM_000282.4(PCCA):c.660C>T (p.Ala220=) rs145826296
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys) rs778530330
NM_000282.4(PCCA):c.69G>A (p.Gln23=) rs1593997093
NM_000282.4(PCCA):c.717-2A>G
NM_000282.4(PCCA):c.717-5dup
NM_000282.4(PCCA):c.717-8T>C
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.72G>A (p.Gln24=)
NM_000282.4(PCCA):c.734C>G (p.Ser245Ter) rs1594992191
NM_000282.4(PCCA):c.747T>C (p.Ala249=) rs1594992384
NM_000282.4(PCCA):c.75G>T (p.Leu25=)
NM_000282.4(PCCA):c.762C>A (p.Gly254=) rs758211858
NM_000282.4(PCCA):c.771A>G (p.Arg257=) rs1483857199
NM_000282.4(PCCA):c.780A>T (p.Ile260=)
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687
NM_000282.4(PCCA):c.803G>A (p.Arg268His) rs368047060
NM_000282.4(PCCA):c.819+10T>C
NM_000282.4(PCCA):c.819+9A>G rs372739944
NM_000282.4(PCCA):c.820-1G>A
NM_000282.4(PCCA):c.820-9C>T
NM_000282.4(PCCA):c.825A>G (p.Leu275=) rs376560248
NM_000282.4(PCCA):c.828T>C (p.Gly276=) rs143838146
NM_000282.4(PCCA):c.832A>G (p.Lys278Glu) rs1595032543
NM_000282.4(PCCA):c.847T>C (p.Leu283=)
NM_000282.4(PCCA):c.849A>G (p.Leu283=)
NM_000282.4(PCCA):c.858T>C (p.Asn286=)
NM_000282.4(PCCA):c.862A>C (p.Arg288=) rs121964957
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys) rs879253810
NM_000282.4(PCCA):c.864A>G (p.Arg288=)
NM_000282.4(PCCA):c.866_867del (p.Glu289fs) rs760976198
NM_000282.4(PCCA):c.870C>T (p.Cys290=) rs141174380
NM_000282.4(PCCA):c.872C>G (p.Ser291Ter)
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) rs879253805
NM_000282.4(PCCA):c.897G>C (p.Val299=)
NM_000282.4(PCCA):c.904G>C (p.Glu302Gln)
NM_000282.4(PCCA):c.90G>C (p.Ala30=)
NM_000282.4(PCCA):c.912A>G (p.Pro304=)
NM_000282.4(PCCA):c.914+10C>G
NM_000282.4(PCCA):c.914+19A>G rs4306370
NM_000282.4(PCCA):c.914+8T>A rs543352333
NM_000282.4(PCCA):c.915-1G>C rs367615795
NM_000282.4(PCCA):c.915-6A>G
NM_000282.4(PCCA):c.915-8A>G
NM_000282.4(PCCA):c.915C>G (p.Ser305Arg) rs768758704
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000282.4(PCCA):c.929C>T (p.Ala310Val) rs146927771
NM_000282.4(PCCA):c.930G>C (p.Ala310=)
NM_000282.4(PCCA):c.933G>C (p.Glu311Asp)
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179
NM_000282.4(PCCA):c.940A>C (p.Arg314=)
NM_000282.4(PCCA):c.942A>G (p.Arg314=)
NM_000282.4(PCCA):c.945G>A (p.Ala315=) rs373115130
NM_000282.4(PCCA):c.94C>A (p.Arg32=)
NM_000282.4(PCCA):c.954A>G (p.Glu318=)
NM_000282.4(PCCA):c.966T>G (p.Ala322=)
NM_000282.4(PCCA):c.972C>G (p.Ala324=)
NM_000282.4(PCCA):c.972C>T (p.Ala324=)
NM_000282.4(PCCA):c.999G>A (p.Gly333=)
NM_000282.4(PCCA):c.9G>C (p.Gly3=) rs547209141

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