List of variants studied for amino acid metabolism disease by UCLA Clinical Genomics Center, UCLA

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg)	rs772871471	0.00002
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)	rs537043237	0.00002
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)	rs121912631	0.00001
NM_000087.3(CNGA1):c.[652C>T];[959C>T]
NM_000255.3(MMUT):c.[1891delG];[322C>T]
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_004453.3(ETFDH):c.[1367C>T];[1487T>C]
NM_006343.3(MERTK):c.2192T>C (p.Leu731Ser)	rs863224894
NM_014049.4(ACAD9):c.[1846C>T];[359delT]
NM_018706.6(DHTKD1):c.[2143C>T];[2185G>A]
NM_145199.2(LIPT1):c.[806G>A];[980T>G]
NM_201253.3(CRB1):c.2227G>C (p.Val743Leu)	rs863224862
NM_201548.4(CERKL):c.[674A>T];[769C>T]

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