ClinVar Miner

List of variants in gene PCCA reported by GeneDx

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Gene type:
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Total variants: 65
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HGVS dbSNP
NM_000282.4(PCCA):c.-14C>T rs113438150
NM_000282.4(PCCA):c.-20G>A rs374941593
NM_000282.4(PCCA):c.105+273G>A rs7984311
NM_000282.4(PCCA):c.1065+5C>T rs201597816
NM_000282.4(PCCA):c.1131T>G (p.Ala377=) rs754991015
NM_000282.4(PCCA):c.1176C>T (p.Asn392=) rs138597181
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120
NM_000282.4(PCCA):c.1257G>A (p.Gln419=) rs147839487
NM_000282.4(PCCA):c.1284+16G>A rs113610934
NM_000282.4(PCCA):c.1284+1G>A rs752761437
NM_000282.4(PCCA):c.1285-15C>T rs779554504
NM_000282.4(PCCA):c.1285-4C>T rs372262089
NM_000282.4(PCCA):c.1285-7C>T rs748531448
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.4(PCCA):c.1429+7A>G rs16957276
NM_000282.4(PCCA):c.1430-18A>T rs770776146
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) rs148651921
NM_000282.4(PCCA):c.1541-12_1541-9del rs763530693
NM_000282.4(PCCA):c.1541-19del rs773809966
NM_000282.4(PCCA):c.1541-37TGAT[3] rs748498827
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
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.184-17_184-16del rs111778723
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.1846-9G>T rs141118743
NM_000282.4(PCCA):c.2040+11dup rs779884567
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.2119-204A>G rs857294
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833
NM_000282.4(PCCA):c.231+15C>T rs202049874
NM_000282.4(PCCA):c.24A>G (p.Thr8=) rs117397004
NM_000282.4(PCCA):c.300+300T>C rs73570922
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587
NM_000282.4(PCCA):c.414+104C>T rs9585366
NM_000282.4(PCCA):c.414+15A>G rs1016791209
NM_000282.4(PCCA):c.414+276G>T rs77110421
NM_000282.4(PCCA):c.414+88A>G rs9585365
NM_000282.4(PCCA):c.415-132T>A rs111596243
NM_000282.4(PCCA):c.415-9A>G rs1057520932
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.42C>T (p.Ala14=) rs200714802
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro) rs774457925
NM_000282.4(PCCA):c.468+11A>C rs187554010
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.600+325T>A rs113566641
NM_000282.4(PCCA):c.601-10G>A rs903647084
NM_000282.4(PCCA):c.637+18C>T rs758676556
NM_000282.4(PCCA):c.645T>G (p.Pro215=) rs751840442
NM_000282.4(PCCA):c.742G>A (p.Glu248Lys) rs1064793224
NM_000282.4(PCCA):c.806A>G (p.His269Arg) rs886039751
NM_000282.4(PCCA):c.828T>C (p.Gly276=) rs143838146
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+46TTCA[3] rs113891803

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