List of variants in gene TKT studied for Transketolase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001064.4(TKT):c.748+39C>G	rs6445573	0.96164
NM_001064.4(TKT):c.1264+17T>C	rs3736156	0.53227
NM_001064.4(TKT):c.748+17C>T	rs2242301	0.37137
NM_001064.4(TKT):c.749-15G>A	rs17234092	0.17692
NM_001064.4(TKT):c.541A>G (p.Ile181Val)	rs17052920	0.00449
NM_001064.4(TKT):c.952C>T (p.Arg318Cys)	rs782092363	0.00004
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG	rs781905246	0.00004
NM_001064.4(TKT):c.1136G>A (p.Arg379His)
NM_001064.4(TKT):c.1265-47G>C	rs3736155
NM_001064.4(TKT):c.1604T>A (p.Phe535Tyr)
NM_001064.4(TKT):c.1697-49C>T	rs3816767
NM_001064.4(TKT):c.181C>T (p.Gln61Ter)
NM_001064.4(TKT):c.458T>C (p.Leu153Pro)
NM_001064.4(TKT):c.633G>A (p.Trp211Ter)	rs868953318

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