List of variants reported as not provided for amino acid metabolism disease by Inserm U 954, Faculté de Médecine de Nancy

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)	rs796051996	0.00001
NM_000071.3(CBS):c.362G>T (p.Arg121Leu)	rs770095972
NM_000277.3(PAH):c.155del (p.Leu52fs)	rs281865165
NM_005957.5(MTHFR):c.1606G>A (p.Val536Ile)	rs786204028
NM_005957.5(MTHFR):c.1611T>A (p.Asn537Lys)	rs796064511
NM_005957.5(MTHFR):c.197C>T (p.Pro66Leu)	rs796064512
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)	rs796064513
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1])	rs770077320
NM_172250.3(MMAA):c.370C>T (p.Gln124Ter)	rs796064514

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