List of variants reported as likely pathogenic for thiamine-responsive dysfunction syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_022445.4(TPK1):c.185+1G>A	rs747753388	0.00002
NM_022445.4(TPK1):c.119T>C (p.Leu40Pro)	rs387906936	0.00001
NC_000007.13:g.(?_144320239)_(144345992_?)dup
NC_000007.13:g.(?_144320239)_(144463064_?)dup
NC_000007.14:g.(?_144591403)_(144591589_?)del
NM_022445.4(TPK1):c.115+1G>T
NM_022445.4(TPK1):c.116-2A>G	rs2151035560
NM_022445.4(TPK1):c.501+1G>T	rs2150827249
NM_025243.4(SLC19A3):c.1172+2T>G	rs2106325851
NM_025243.4(SLC19A3):c.1173-1G>A
NM_025243.4(SLC19A3):c.1403del (p.Lys468fs)
NM_025243.4(SLC19A3):c.150+2T>C	rs780157041
NM_025243.4(SLC19A3):c.151-1G>C
NM_025243.4(SLC19A3):c.1A>C (p.Met1Leu)
NM_025243.4(SLC19A3):c.280T>C (p.Trp94Arg)	rs1695586409
NM_025243.4(SLC19A3):c.67G>C (p.Gly23Arg)

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