ClinVar Miner

List of variants in gene PCCA reported as likely pathogenic for not provided

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Total variants: 10
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NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000282.4(PCCA):c.1747-3C>G rs1555455109
NM_000282.4(PCCA):c.2118+1G>A rs886043045
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs) rs1317003529
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro) rs774457925
NM_000282.4(PCCA):c.742G>A (p.Glu248Lys) rs1064793224
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000282.4(PCCA):c.806A>G (p.His269Arg) rs886039751
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000282.4(PCCA):c.947T>G (p.Met316Arg) rs137861347

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