List of variants studied for inborn disorder of amino acid metabolism by Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)

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		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro)	rs2904551	0.00282
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)	rs5030857	0.00057
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)	rs5030853	0.00034
NM_000277.3(PAH):c.1066-11G>A	rs5030855	0.00028
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)	rs398124598	0.00015
NM_000666.3(ACY1):c.575dup (p.Ser192fs)	rs770702363	0.00014
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)	rs387907236	0.00002
NM_000048.4(ASL):c.332G>A (p.Arg111Gln)	rs561367199	0.00001
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)	rs777758903	0.00001
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)	rs186031457	0.00001
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)	rs745704046
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)	rs863223432
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter)	rs879253852
NM_000277.3(PAH):c.833C>A (p.Thr278Asn)	rs62507262
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)	rs796052019
NM_000531.6(OTC):c.626C>T (p.Ala209Val)	rs72558417
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)	rs786200983
NM_003124.5(SPR):c.370T>C (p.Trp124Arg)
NM_003124.5(SPR):c.631del (p.Glu211fs)
NM_021800.3(DNAJC12):c.214C>T (p.Arg72Ter)	rs569240271
NM_022132.5(MCCC2):c.281+5G>T

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