ClinVar Miner

List of variants reported as likely benign for Propionic acidemia by Counsyl

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000282.4(PCCA):c.300+20G>T rs371217257 0.00012
NM_000532.5(PCCB):c.555G>A (p.Thr185=) rs543691110 0.00010
NM_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563 0.00002
NM_000282.4(PCCA):c.432A>G (p.Gly144=) rs768756825 0.00001
NM_000282.4(PCCA):c.2040+9TG[5] rs751014655
NM_000532.5(PCCB):c.1452A>G (p.Ala484=) rs781556055
NM_000532.5(PCCB):c.373-1271del rs1553774493
NM_000532.5(PCCB):c.373-1281G>A rs1553774486
NM_000532.5(PCCB):c.373-1297_373-1295del rs1553774476

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