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

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Total variants: 15

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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_206933.4(USH2A):c.14398A>G (p.Asn4800Asp)	rs370127889	0.00006
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)	rs538023671	0.00001
NM_000071.3(CBS):c.874_875delinsTT (p.Glu292Leu)	rs1064795178
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup)	rs779931959
NM_000240.4(MAOA):c.11_12del (p.Gln4fs)
NM_001081.4(CUBN):c.4366G>A (p.Asp1456Asn)
NM_001081.4(CUBN):c.6905C>T (p.Pro2302Leu)
NM_001127222.2(CACNA1A):c.1586_1587del (p.Phe529fs)	rs1555761603
NM_001330260.2(SCN8A):c.4913G>A (p.Arg1638His)	rs1064794873
NM_004171.4(SLC1A2):c.193C>T (p.Arg65Cys)	rs1326870463
NM_004974.4(KCNA2):c.1216G>A (p.Val406Ile)	rs1553181257
NM_004974.4(KCNA2):c.794C>G (p.Pro265Arg)

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