ClinVar Miner

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

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000282.4(PCCA):c.231+15C>T rs202049874 0.00291
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881 0.00159
NM_000282.4(PCCA):c.300+3930C>T rs767934206 0.00105
NM_000282.4(PCCA):c.2118+988G>A rs556040424 0.00004
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687 0.00004
NM_000282.4(PCCA):c.2T>C (p.Met1Thr) rs372093520 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro) rs794727479 0.00001
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro) rs774457925 0.00001
NC_000013.10:g.(101077986_101101505)_(101101560_101167680)dup
NM_000282.4(PCCA):c.1160C>G (p.Ala387Gly) rs1484267212
NM_000282.4(PCCA):c.1209+6dup rs746645726
NM_000282.4(PCCA):c.2061T>G (p.Ile687Met)
NM_000282.4(PCCA):c.729A>T (p.Arg243Ser)
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) rs879253805
NM_000282.4(PCCA):c.947T>A (p.Met316Lys) rs137861347

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