List of variants reported as pathogenic for thiamine-responsive dysfunction syndrome by OMIM

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_001126121.2(SLC25A19):c.530G>C (p.Gly177Ala)	rs119473030	0.00024
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.76G>A (p.Gly26Arg)	rs181826033	0.00002
NM_006996.3(SLC19A2):c.242dup (p.Tyr81Ter)	rs752104654	0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)	rs121917882	0.00002
NM_001126121.2(SLC25A19):c.576G>C (p.Gln192His)	rs1300370754	0.00001
NM_001126121.2(SLC25A19):c.869T>A (p.Leu290Gln)	rs750590533	0.00001
NM_006996.3(SLC19A2):c.152C>T (p.Pro51Leu)	rs121908540	0.00001
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp)	rs28937595	0.00001
NM_022445.4(TPK1):c.119T>C (p.Leu40Pro)	rs387906936	0.00001
NM_022445.4(TPK1):c.479C>T (p.Ser160Leu)	rs758949475	0.00001
NM_022445.4(TPK1):c.656A>G (p.Asn219Ser)	rs371271054	0.00001
NM_001126121.2(SLC25A19):c.373G>A (p.Gly125Ser)	rs387906944
NM_001126121.2(SLC25A19):c.745T>A (p.Phe249Ile)	rs1598180323
NM_001126121.2(SLC25A19):c.910G>A (p.Glu304Lys)	rs2145724052
NM_006996.3(SLC19A2):c.1074G>A (p.Trp358Ter)	rs74315375
NM_006996.3(SLC19A2):c.1148_1149del (p.Val383fs)	rs1401027751
NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs)	rs1571537879
NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter)	rs74315373
NM_006996.3(SLC19A2):c.725del (p.Pro242fs)	rs1571537544
NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter)	rs74315374
NM_006996.3(SLC19A2):c.885del (p.Leu296fs)	rs1571532822
NM_022445.4(TPK1):c.148A>C (p.Asn50His)	rs387906935
NM_022445.4(TPK1):c.179_182del (p.Arg60fs)	rs1563989427
NM_022445.4(TPK1):c.395T>C (p.Phe132Ser)	rs1417315589
NM_022445.4(TPK1):c.614-1G>A	rs776874412
NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala)	rs121917884
NM_025243.4(SLC19A3):c.130A>G (p.Lys44Glu)	rs137852957
NM_025243.4(SLC19A3):c.20C>A (p.Ser7Ter)	rs713993048
NM_025243.4(SLC19A3):c.74dup (p.Ser26fs)	rs786205213
NM_025243.4(SLC19A3):c.958G>C (p.Glu320Gln)	rs137852958

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