List of variants reported as benign for disorder of beta and omega amino acid metabolism by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_020686.6(ABAT):c.448-15T>A	rs2302608	0.86261
NM_020686.6(ABAT):c.167A>G (p.Gln56Arg)	rs1731017	0.53047
NM_020686.6(ABAT):c.169-5T>C	rs1641010	0.49394
NM_020686.6(ABAT):c.1381+9T>C	rs1079348	0.33159
NM_020686.6(ABAT):c.984C>A (p.Val328=)	rs1641022	0.32625
NM_020686.6(ABAT):c.309C>T (p.Val103=)	rs2229157	0.09544
NM_020686.6(ABAT):c.1270-4A>G	rs12447235	0.07354
NM_020686.6(ABAT):c.129G>A (p.Gly43=)	rs2228081	0.03085
NM_020686.6(ABAT):c.1147C>T (p.Leu383=)	rs2229158	0.02911
NM_020686.6(ABAT):c.168+12A>G	rs75151311	0.00925
NM_020686.6(ABAT):c.603+3G>A	rs41312254	0.00925
NM_020686.6(ABAT):c.1269+4A>C	rs183947905	0.00716
NM_020686.6(ABAT):c.954+16C>T	rs41311266	0.00550
NM_020686.6(ABAT):c.1452C>T (p.His484=)	rs61730647	0.00407
NM_020686.6(ABAT):c.816+7C>A	rs376046736	0.00332
NM_020686.6(ABAT):c.817-6A>G	rs140106845	0.00319
NM_020686.6(ABAT):c.366+11G>T	rs141893184	0.00318
NM_020686.6(ABAT):c.55C>T (p.Arg19Cys)	rs77696190	0.00287
NM_020686.6(ABAT):c.30G>A (p.Leu10=)	rs34813662	0.00200
NM_020686.6(ABAT):c.366+10G>A	rs61307956	0.00097
NM_020686.6(ABAT):c.448-20G>A	rs200644195	0.00065
NM_020686.6(ABAT):c.267C>T (p.Asp89=)	rs199666932	0.00057
NM_020686.6(ABAT):c.684G>A (p.Thr228=)	rs148143485	0.00030
NM_020686.6(ABAT):c.1278C>T (p.Tyr426=)	rs372283568	0.00005
NM_020686.6(ABAT):c.816+18C>T	rs770606061	0.00004
NM_020686.6(ABAT):c.540+14CA[10]	rs35745596
NM_020686.6(ABAT):c.540+14CA[12]	rs35745596
NM_020686.6(ABAT):c.540+14CA[13]	rs35745596
NM_020686.6(ABAT):c.70+9del
NM_020686.6(ABAT):c.70+9dup

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