ClinVar Miner

List of variants in gene PCCA reported as pathogenic by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 7
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HGVS dbSNP
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter) rs398123297
NM_000282.4(PCCA):c.1561_1566delinsTATTGCCAATAACC (p.Glu521_Lys522delinsTyrCysGlnTer) rs1555425572
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) rs776496862
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000282.4(PCCA):c.232-1G>A rs794727620
NM_000282.4(PCCA):c.775_779del (p.Leu259fs) rs794726976
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179

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