List of variants studied for amino acid metabolism disease by NxGen MDx

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000187.4(HGD):c.367G>A (p.Gly123Arg)	rs564979861	0.00002
NM_000187.4(HGD):c.343G>C (p.Gly115Arg)	rs755734596	0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser)	rs762304556	0.00001
NM_000018.4(ACADVL):c.739A>C (p.Lys247Gln)	rs387906253
NM_000071.3(CBS):c.1341del (p.Val448fs)	rs2146340713
NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro)	rs1555751379
NM_000159.4(GCDH):c.505+1G>A	rs968628450
NM_000187.4(HGD):c.566G>T (p.Ser189Ile)	rs2107510544
NM_000277.3(PAH):c.830_831insC (p.Thr278fs)	rs2136646052

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