List of variants reported as likely pathogenic for Childhood encephalopathy due to thiamine pyrophosphokinase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 8

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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

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