List of variants reported as pathogenic for Propionic acidemia by Natera, Inc.

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		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp)	rs202247823	0.00016
NM_000282.4(PCCA):c.1284+1G>A	rs752761437	0.00007
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)	rs141371306	0.00006
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)	rs121964959	0.00006
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)	rs374722096	0.00005
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)	rs138149179	0.00003
NM_000532.5(PCCB):c.1398+1G>T	rs794727092	0.00003
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)	rs768703749	0.00001
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)	rs771438170	0.00001
NM_000282.4(PCCA):c.2041-2A>G	rs776281864	0.00001
NM_000282.4(PCCA):c.231+1G>C	rs972937270	0.00001
NM_000282.4(PCCA):c.415-2A>C	rs746286209	0.00001
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile)	rs111033542	0.00001
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)	rs751538672	0.00001
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter)	rs202247820	0.00001
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)	rs753981900	0.00001
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)	rs186031457	0.00001
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)	rs879253815	0.00001
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)	rs121964960	0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)	rs572246667	0.00001
NM_000282.4(PCCA):c.722del (p.Gly241fs)	rs745571507
NM_000282.4(PCCA):c.923dup (p.Leu308fs)	rs573607437
NM_000532.5(PCCB):c.1173dup (p.Val392fs)	rs587776758
NM_000532.5(PCCB):c.1498+2T>C	rs879253816
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys)	rs186710233
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)	rs749908889
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)	rs755776820
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)	rs786200983

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