ClinVar Miner

List of variants in gene PCCA reported by Counsyl

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Total variants: 53
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HGVS dbSNP
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000282.4(PCCA):c.1102G>C (p.Asp368His) rs1555411121
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs) rs879253806
NM_000282.4(PCCA):c.1209+3A>G rs1467680142
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu) rs1443858896
NM_000282.4(PCCA):c.1284+1G>A rs752761437
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907
NM_000282.4(PCCA):c.1540+1G>C rs199604072
NM_000282.4(PCCA):c.1540+2T>A rs1555422449
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del) rs937519016
NM_000282.4(PCCA):c.15G>A (p.Trp5Ter) rs11539554
NM_000282.4(PCCA):c.1643+1_1643+2dup rs1555425626
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304
NM_000282.4(PCCA):c.1747-1G>C rs879253803
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) rs776496862
NM_000282.4(PCCA):c.183+2T>C rs1555342593
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.1846-1G>A rs1555298451
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg) rs796052018
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys) rs999241357
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170
NM_000282.4(PCCA):c.2027del (p.Lys676fs) rs1555327702
NM_000282.4(PCCA):c.2040+1G>T rs1555327732
NM_000282.4(PCCA):c.2040+9TG[5] rs751014655
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2041-2A>G rs776281864
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter) rs1241896966
NM_000282.4(PCCA):c.2103del (p.Thr704fs) rs1555331314
NM_000282.4(PCCA):c.2133_2135del (p.Cys712del) rs1316778844
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs) rs749875940
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro) rs794727479
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306
NM_000282.4(PCCA):c.231+1G>C rs972937270
NM_000282.4(PCCA):c.2T>C (p.Met1Thr) rs372093520
NM_000282.4(PCCA):c.2dup (p.Met1fs) rs1179536678
NM_000282.4(PCCA):c.300+20G>T rs371217257
NM_000282.4(PCCA):c.432A>G (p.Gly144=) rs768756825
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer) rs1555361758
NM_000282.4(PCCA):c.600+1G>T rs879253802
NM_000282.4(PCCA):c.608AAG[1] (p.Glu204del) rs750672608
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp) rs1555396108
NM_000282.4(PCCA):c.69_78del (p.Gln23fs) rs781030239
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.775_779del (p.Leu259fs) rs794726976
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000282.4(PCCA):c.843del (p.Asn281fs) rs1555400381
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000282.4(PCCA):c.915-1G>C rs367615795
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179

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