ClinVar Miner

List of variants in gene PCCA studied for not provided

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Total variants: 80
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HGVS dbSNP
GRCh37/hg19 13q32.3(chr13:100825782-100942854)x1
GRCh37/hg19 13q32.3(chr13:100893208-101016939)x1
GRCh37/hg19 13q32.3(chr13:100909075-101043671)x1
GRCh37/hg19 13q32.3(chr13:100934274-101067851)x1
GRCh37/hg19 13q32.3(chr13:100934274-101069066)x1
GRCh37/hg19 13q32.3(chr13:100955214-101068723)x1
GRCh37/hg19 13q32.3(chr13:100964141-100996801)x1
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter) rs398123297
NM_000282.4(PCCA):c.105+273G>A rs7984311
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000282.4(PCCA):c.1089C>T (p.Cys363=) rs766934571
NM_000282.4(PCCA):c.1136G>T (p.Gly379Val) rs794727087
NM_000282.4(PCCA):c.1284+1G>A rs752761437
NM_000282.4(PCCA):c.1353+10A>C rs1595236362
NM_000282.4(PCCA):c.1354-8G>T rs1375878402
NM_000282.4(PCCA):c.1408C>T (p.Leu470=) rs1566911871
NM_000282.4(PCCA):c.1437A>G (p.Thr479=) rs1224037636
NM_000282.4(PCCA):c.1491A>G (p.Gly497=) rs965243149
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881
NM_000282.4(PCCA):c.1561_1566delinsTATTGCCAATAACC (p.Glu521_Lys522delinsTyrCysGlnTer) rs1555425572
NM_000282.4(PCCA):c.1659A>G (p.Lys553=) rs764395477
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356
NM_000282.4(PCCA):c.1746+98T>A rs10508043
NM_000282.4(PCCA):c.1747-113G>A rs62619988
NM_000282.4(PCCA):c.1747-161C>T rs75527610
NM_000282.4(PCCA):c.1747-3C>G rs1555455109
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) rs776496862
NM_000282.4(PCCA):c.184-305T>C rs4772265
NM_000282.4(PCCA):c.1846-104C>G rs1283292
NM_000282.4(PCCA):c.1846-273A>G rs139759394
NM_000282.4(PCCA):c.1846-43G>C rs1283293
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000282.4(PCCA):c.2001C>T (p.Pro667=) rs778845861
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.2040+172C>T rs837286
NM_000282.4(PCCA):c.2040+242G>T rs61614293
NM_000282.4(PCCA):c.2118+191G>C rs837335
NM_000282.4(PCCA):c.2118+1G>A rs886043045
NM_000282.4(PCCA):c.2118+988G>A rs556040424
NM_000282.4(PCCA):c.2119-204A>G rs857294
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs) rs1317003529
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro) rs794727479
NM_000282.4(PCCA):c.231+15C>T rs202049874
NM_000282.4(PCCA):c.232-1G>A rs794727620
NM_000282.4(PCCA):c.300+20G>T rs371217257
NM_000282.4(PCCA):c.300+300T>C rs73570922
NM_000282.4(PCCA):c.300+3930C>T rs767934206
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587
NM_000282.4(PCCA):c.33G>T (p.Leu11=) rs922002208
NM_000282.4(PCCA):c.414+104C>T rs9585366
NM_000282.4(PCCA):c.414+276G>T rs77110421
NM_000282.4(PCCA):c.414+7C>G rs1051098122
NM_000282.4(PCCA):c.414+88A>G rs9585365
NM_000282.4(PCCA):c.415-132T>A rs111596243
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro) rs774457925
NM_000282.4(PCCA):c.468+148G>T rs77295050
NM_000282.4(PCCA):c.468+211A>G rs1556800
NM_000282.4(PCCA):c.469-324C>T rs17196604
NM_000282.4(PCCA):c.54G>A (p.Gly18=) rs1373903905
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.600+325T>A rs113566641
NM_000282.4(PCCA):c.612A>G (p.Glu204=) rs1594860188
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229
NM_000282.4(PCCA):c.660C>T (p.Ala220=) rs145826296
NM_000282.4(PCCA):c.686T>A (p.Met229Lys) rs375628794
NM_000282.4(PCCA):c.742G>A (p.Glu248Lys) rs1064793224
NM_000282.4(PCCA):c.771A>G (p.Arg257=) rs1483857199
NM_000282.4(PCCA):c.775_779del (p.Leu259fs) rs794726976
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000282.4(PCCA):c.806A>G (p.His269Arg) rs886039751
NM_000282.4(PCCA):c.870C>T (p.Cys290=) rs141174380
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000282.4(PCCA):c.914+19A>G rs4306370
NM_000282.4(PCCA):c.914+46TTCA[3] rs113891803
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179
NM_000282.4(PCCA):c.947T>A (p.Met316Lys) rs137861347
NM_000282.4(PCCA):c.947T>G (p.Met316Arg) rs137861347

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