List of variants reported as likely benign for amino acid metabolism disease by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)	rs151268759	0.00419
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)	rs148584617	0.00244
NM_001370658.1(BTD):c.68A>G (p.His23Arg)	rs146011150	0.00042
NM_001271.4(CHD2):c.3386A>G (p.Glu1129Gly)	rs927604763	0.00001
NM_001127222.2(CACNA1A):c.6937CAG[4] (p.Gln2317_Gln2325del)	rs16054
NM_001271.4(CHD2):c.1913C>G (p.Ser638Cys)	rs2053619310
NM_001271.4(CHD2):c.2650A>G (p.Ile884Val)	rs2053935304
NM_001271.4(CHD2):c.4511A>G (p.Asn1504Ser)	rs2141881607

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