ClinVar Miner

List of variants in gene PCCA reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 28
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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.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.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.1430-18A>T rs770776146
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.1846-273A>G rs139759394
NM_000282.4(PCCA):c.1846-43G>C rs1283293
NM_000282.4(PCCA):c.2040+11dup rs779884567
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833
NM_000282.4(PCCA):c.24A>G (p.Thr8=) rs117397004
NM_000282.4(PCCA):c.414+15A>G rs1016791209
NM_000282.4(PCCA):c.415-9A>G rs1057520932
NM_000282.4(PCCA):c.42C>T (p.Ala14=) rs200714802
NM_000282.4(PCCA):c.468+11A>C rs187554010
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.828T>C (p.Gly276=) rs143838146
NM_000282.4(PCCA):c.870C>T (p.Cys290=) rs141174380

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