ClinVar Miner

List of variants in gene PCCA reported as uncertain significance by Invitae

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Total variants: 35
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HGVS dbSNP
NC_000013.10:g.(?_100861566)_(100861737_?)del
NC_000013.11:g.(?_100425613)_(100425751_?)del
NM_000282.4(PCCA):c.1007A>G (p.Glu336Gly)
NM_000282.4(PCCA):c.1065+5C>T rs201597816
NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp) rs1234167788
NM_000282.4(PCCA):c.1275T>G (p.His425Gln)
NM_000282.4(PCCA):c.1342A>G (p.Met448Val) rs767060690
NM_000282.4(PCCA):c.1519G>A (p.Val507Met)
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile)
NM_000282.4(PCCA):c.177T>A (p.Asn59Lys)
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.1886T>G (p.Phe629Cys)
NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser) rs1594099709
NM_000282.4(PCCA):c.1933G>A (p.Glu645Lys)
NM_000282.4(PCCA):c.202G>A (p.Val68Ile) rs768750176
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro)
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs) rs1317003529
NM_000282.4(PCCA):c.2155G>A (p.Gly719Arg)
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs) rs749875940
NM_000282.4(PCCA):c.287T>C (p.Val96Ala)
NM_000282.4(PCCA):c.2T>C (p.Met1Thr) rs372093520
NM_000282.4(PCCA):c.415G>A (p.Val139Ile)
NM_000282.4(PCCA):c.522G>A (p.Met174Ile) rs780406346
NM_000282.4(PCCA):c.590G>C (p.Gly197Ala) rs766245108
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys) rs778530330
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687
NM_000282.4(PCCA):c.803G>A (p.Arg268His) rs368047060
NM_000282.4(PCCA):c.819+9A>G rs372739944
NM_000282.4(PCCA):c.832A>G (p.Lys278Glu) rs1595032543
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) rs879253805
NM_000282.4(PCCA):c.904G>C (p.Glu302Gln)
NM_000282.4(PCCA):c.915-8A>G
NM_000282.4(PCCA):c.915C>G (p.Ser305Arg) rs768758704
NM_000282.4(PCCA):c.929C>T (p.Ala310Val) rs146927771
NM_000282.4(PCCA):c.933G>C (p.Glu311Asp)

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