List of variants studied for amino acid metabolism disease by Clinical Genomics Laboratory, Washington University in St. Louis

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)	rs117225135	0.00190
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser)	rs141164907	0.00089
NM_001609.4(ACADSB):c.303+1G>A	rs147936696	0.00037
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)	rs538023671	0.00001
NM_000071.3(CBS):c.874_875delinsTT (p.Glu292Leu)	rs1064795178
NM_001081.4(CUBN):c.6905C>T (p.Pro2302Leu)
NM_001127222.2(CACNA1A):c.1586_1587del (p.Phe529fs)	rs1555761603
NM_001271.4(CHD2):c.2425C>T (p.Arg809Ter)	rs146691368
NM_001330260.2(SCN8A):c.4913G>A (p.Arg1638His)	rs1064794873
NM_004171.4(SLC1A2):c.193C>T (p.Arg65Cys)	rs1326870463

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