List of variants studied for amino acid metabolism disease by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)	rs756762196	0.00002
NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs)	rs2144956340
NM_001271.4(CHD2):c.1153+3_1153+19del	rs2141791104
NM_001271.4(CHD2):c.2767dup (p.Glu923fs)	rs2141844219
NM_001330260.2(SCN8A):c.2633T>C (p.Leu878Pro)	rs1942828881
NM_001330260.2(SCN8A):c.4264G>A (p.Ala1422Thr)	rs2138908345
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)	rs587780455
NM_001958.5(EEF1A2):c.1138G>C (p.Asp380His)	rs2082366378
NM_003042.4(SLC6A1):c.404G>A (p.Trp135Ter)	rs1697263091
NM_005629.4(SLC6A8):c.1016+2T>C	rs1557045066

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