ClinVar Miner

List of variants in gene PCCA reported as pathogenic by Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital

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Gene type:
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Total variants: 20
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NM_000282.3(PCCA):c.183delA rs879253812
NM_000282.4(PCCA):c.105+1G>A rs879253804
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs) rs879253806
NM_000282.4(PCCA):c.134_135del (p.Leu45fs) rs879253809
NM_000282.4(PCCA):c.1353+5_1353+9del rs764045674
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.1747-1G>C rs879253803
NM_000282.4(PCCA):c.184-1G>A rs879253807
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg) rs774949844
NM_000282.4(PCCA):c.284A>G (p.Asp95Gly) rs879253801
NM_000282.4(PCCA):c.431G>T (p.Gly144Val) rs879253808
NM_000282.4(PCCA):c.467T>A (p.Leu156Ter) rs760387660
NM_000282.4(PCCA):c.548T>G (p.Leu183Ter) rs879253811
NM_000282.4(PCCA):c.600+1G>T rs879253802
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys) rs879253810
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) rs879253805
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179

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