ClinVar Miner

List of variants reported as benign for Propionic acidemia by Invitae

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000282.4(PCCA):c.914+19A>G rs4306370 0.92464
NM_000282.4(PCCA):c.1845+10585T>C rs2760311 0.35905
NM_000532.5(PCCB):c.654+20T>C rs3821445 0.15527
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229 0.14245
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356 0.01499
NM_000282.4(PCCA):c.1429+7A>G rs16957276 0.01356
NM_000282.4(PCCA):c.1846-9G>T rs141118743 0.00627
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_000532.5(PCCB):c.546G>A (p.Arg182=) rs61598773 0.00533
NM_000282.4(PCCA):c.231+15C>T rs202049874 0.00291
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120 0.00219
NM_000282.4(PCCA):c.1257G>A (p.Gln419=) rs147839487 0.00201
NM_000532.5(PCCB):c.184-12G>T rs181283691 0.00185
NM_000282.4(PCCA):c.1284+16G>A rs113610934 0.00169
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_000282.4(PCCA):c.828T>C (p.Gly276=) rs143838146 0.00143
NM_000532.5(PCCB):c.1299+9C>A rs60968242 0.00137
NM_000532.5(PCCB):c.138G>C (p.Ala46=) rs145075817 0.00126
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_000532.5(PCCB):c.763+10C>G rs180982841 0.00054
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983 0.00028
NM_000532.5(PCCB):c.1091-16A>C rs534160449 0.00027
NM_000282.4(PCCA):c.24A>G (p.Thr8=) rs117397004 0.00013
NM_000282.4(PCCA):c.468+11A>C rs187554010 0.00010
NM_000532.5(PCCB):c.1299+13T>C rs185352554 0.00010
NM_000282.4(PCCA):c.36C>T (p.Val12=) rs375516917 0.00009
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999 0.00002
NM_000282.4(PCCA):c.106-5dup
NM_000282.4(PCCA):c.1285-13_1285-6del rs535982202
NM_000282.4(PCCA):c.1285-8dup rs2066517246
NM_000282.4(PCCA):c.1354-3dup
NM_000282.4(PCCA):c.1415A>G (p.Asn472Ser)
NM_000282.4(PCCA):c.1430-9dup
NM_000282.4(PCCA):c.184-11dup
NM_000282.4(PCCA):c.184-17_184-16del rs111778723
NM_000282.4(PCCA):c.1900-15del
NM_000282.4(PCCA):c.2041-10del
NM_000282.4(PCCA):c.231+47_231+50del rs147037340
NM_000282.4(PCCA):c.469-9del
NM_000282.4(PCCA):c.915-11dup rs1311154145
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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