ClinVar Miner

List of variants in gene PCCB reported as benign for Propionic acidemia

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000532.5(PCCB):c.967-46A>G rs9833162 0.36992
NM_000532.5(PCCB):c.654+20T>C rs3821445 0.15527
NM_000532.5(PCCB):c.546G>A (p.Arg182=) rs61598773 0.00533
NM_000532.5(PCCB):c.184-12G>T rs181283691 0.00185
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318 0.00162
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_000532.5(PCCB):c.1299+9C>A rs60968242 0.00137
NM_000532.5(PCCB):c.138G>C (p.Ala46=) rs145075817 0.00126
NM_000532.5(PCCB):c.763+10C>G rs180982841 0.00054
NM_000532.5(PCCB):c.1091-16A>C rs534160449 0.00027
NM_000532.5(PCCB):c.654+3A>C rs199886085 0.00014
NM_000532.5(PCCB):c.1299+13T>C rs185352554 0.00010
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999 0.00002
NM_000532.5(PCCB):c.183+15del
NM_000532.5(PCCB):c.304-16del
NM_000532.5(PCCB):c.304-8dup
NM_000532.5(PCCB):c.655-8dup
NM_000532.5(PCCB):c.885-11dup

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