List of variants reported as uncertain significance for classic organic aciduria by Elsea Laboratory, Baylor College of Medicine

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)	rs34885143	0.01036
NM_001698.3(AUH):c.381A>G (p.Ile127Met)	rs146227896	0.00125
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)	rs200483477	0.00072
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr)	rs148332041	0.00033
NM_000532.5(PCCB):c.180G>A (p.Lys60=)	rs140636870	0.00031
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)	rs377405910	0.00030
NM_000255.4(MMUT):c.566A>G (p.Asn189Ser)	rs200908035	0.00028
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser)	rs758938066	0.00002
NM_004813.4(PEX16):c.710T>G (p.Leu237Arg)	rs753577538	0.00001
NM_005050.4(ABCD4):c.1794G>C (p.Trp598Cys)	rs773609274	0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)	rs121918329	0.00001
NM_014362.4(HIBCH):c.790C>T (p.His264Tyr)	rs1280144449	0.00001
NM_000255.4(MMUT):c.188C>T (p.Thr63Ile)	rs1767776360
NM_001609.4(ACADSB):c.1128+3A>G	rs760423996
NM_001698.3(AUH):c.419G>A (p.Gly140Asp)	rs1829899485
NM_013247.5(HTRA2):c.739C>T (p.Arg247Cys)	rs763567914

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