ClinVar Miner

List of variants in gene PCCA reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 8
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NM_000282.4(PCCA):c.1284+1G>A rs752761437
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306
NM_000282.4(PCCA):c.231+1G>C rs972937270
NM_000282.4(PCCA):c.415-2A>C rs746286209
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179

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