List of variants studied for thiamine-responsive dysfunction syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=)	rs34080459	0.01664
NM_025243.4(SLC19A3):c.309G>A (p.Val103=)	rs142837989	0.00618
NM_022445.4(TPK1):c.98G>A (p.Arg33His)	rs77358162	0.00512
NM_025243.4(SLC19A3):c.977G>T (p.Gly326Val)	rs747823282	0.00016
NM_022445.4(TPK1):c.501+4A>T	rs375169579	0.00009
NM_025243.4(SLC19A3):c.980-14A>G	rs200542114	0.00008
NM_001126121.2(SLC25A19):c.73T>G (p.Ser25Ala)	rs777474053	0.00006
NM_022445.4(TPK1):c.491T>C (p.Leu164Pro)	rs374946048	0.00004
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His)	rs145999922	0.00004
NM_006996.3(SLC19A2):c.487A>T (p.Ser163Cys)	rs548333207	0.00003
NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile)	rs769399113	0.00001
NM_006996.3(SLC19A2):c.104C>T (p.Ala35Val)	rs756487822	0.00001
NM_006996.3(SLC19A2):c.807+2T>G	rs1234256852
NM_022445.4(TPK1):c.664G>C (p.Asp222His)	rs368458768
NM_025243.4(SLC19A3):c.597dup (p.His200fs)	rs773140674

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