List of variants studied for disorder of metabolite absorption and transport by Laboratory of Metabolic Disorders, Peking University First Hospital

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001126121.2(SLC25A19):c.194C>T (p.Ala65Val)	rs1555604541	0.00001
NM_001126121.2(SLC25A19):c.481G>A (p.Ala161Thr)	rs1208990609	0.00001
NM_001126121.2(SLC25A19):c.550G>C (p.Ala184Pro)	rs769187207	0.00001
NM_025243.4(SLC19A3):c.850T>C (p.Trp284Arg)	rs1553571227	0.00001
NC_000002.12:g.(?_227616600)_(227744395_?)del
NM_001126121.2(SLC25A19):c.454C>A (p.Pro152Thr)	rs1555603796
NM_022445.4(TPK1):c.395T>C (p.Phe132Ser)	rs1417315589
NM_022445.4(TPK1):c.614-1G>A	rs776874412
NM_025243.4(SLC19A3):c.1274TAG[1] (p.Val426del)	rs1553568249
NM_025243.4(SLC19A3):c.197T>C (p.Leu66Pro)	rs1553571813
NM_025243.4(SLC19A3):c.265A>C (p.Ser89Arg)	rs759807393
NM_025243.4(SLC19A3):c.962C>T (p.Ala321Val)	rs1282844765

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