List of variants reported as pathogenic for inborn disorder of amino acid metabolism by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)	rs5030857	0.00057
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)	rs28937873	0.00032
NM_000137.4(FAH):c.1062+5G>A	rs80338901	0.00028
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)	rs121964990	0.00016
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)	rs138818907	0.00011
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met)	rs369641941	0.00009
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)	rs121908646	0.00007
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	rs61752871	0.00006
NM_000137.4(FAH):c.1A>G (p.Met1Val)	rs1057517972	0.00003
NM_002225.5(IVD):c.1175G>A (p.Arg392His)	rs982218848	0.00003
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter)	rs887126161	0.00001
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)	rs777758903	0.00001
NM_052845.4(MMAB):c.197-1G>T	rs763935916	0.00001
NM_000187.4(HGD):c.175del (p.Ser59fs)	rs397515517
NM_000282.4(PCCA):c.1598_1601del (p.Phe533fs)	rs1344574242
NM_000532.5(PCCB):c.1519C>T (p.Gln507Ter)	rs2108241656
NM_000883.4(IMPDH1):c.942G>C (p.Lys314Asn)
NM_001031710.3(KLHL7):c.1229G>A (p.Trp410Ter)	rs2128469727
NM_001080442.3(SLC38A8):c.116del (p.Gly39fs)	rs2151131708
NM_001354768.3(NRL):c.339C>G (p.Tyr113Ter)	rs1566560531
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	rs80338684
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln)	rs863225045
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)	rs72552726
NM_004113.6(FGF12):c.155G>A (p.Arg52His)	rs886039903
NM_006343.3(MERTK):c.2214del (p.Cys738fs)	rs886039422
NM_022132.5(MCCC2):c.735dup (p.Val247fs)	rs770769655
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)	rs193922710
NM_130837.3(OPA1):c.2873_2876del	rs80356530

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