ClinVar Miner

List of variants in gene PCCA reported by Fulgent Genetics, Fulgent Genetics

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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.1846-9G>T rs141118743 0.00627
NM_000282.4(PCCA):c.1284+16G>A rs113610934 0.00169
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872 0.00044
NM_000282.4(PCCA):c.232-20A>G rs376850891 0.00009
NM_000282.4(PCCA):c.1284+1G>A rs752761437 0.00007
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306 0.00006
NM_000282.4(PCCA):c.803G>A (p.Arg268His) rs368047060 0.00003
NM_000282.4(PCCA):c.946A>T (p.Met316Leu) rs200311920 0.00002
NM_000282.4(PCCA):c.1894A>G (p.Thr632Ala) rs376313696 0.00001
NM_000282.4(PCCA):c.484G>A (p.Val162Ile) rs1442819667 0.00001
NM_000282.4(PCCA):c.1138T>C (p.Tyr380His) rs1303977643
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs) rs1595236063
NM_000282.4(PCCA):c.1716dup (p.Val573fs) rs2152811869
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000282.4(PCCA):c.915-1G>C rs367615795
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437

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