ClinVar Miner

List of variants in gene TKT studied for carbohydrate metabolism disease

Included ClinVar conditions (324):
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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001064.4(TKT):c.748+39C>G rs6445573 0.96419
NM_001064.4(TKT):c.1264+17T>C rs3736156 0.54749
NM_001064.4(TKT):c.748+17C>T rs2242301 0.38236
NM_001064.4(TKT):c.749-15G>A rs17234092 0.17692
NM_001064.4(TKT):c.541A>G (p.Ile181Val) rs17052920 0.00445
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) rs782390818 0.00003
NM_001064.4(TKT):c.1604T>A (p.Phe535Tyr) rs1469399284 0.00001
NM_001064.4(TKT):c.*3C>T
NM_001064.4(TKT):c.1265-47G>C rs3736155
NM_001064.4(TKT):c.1697-49C>T rs3816767
NM_001064.4(TKT):c.181C>T (p.Gln61Ter) rs2471185030
NM_001064.4(TKT):c.458T>C (p.Leu153Pro)
NM_001064.4(TKT):c.633G>A (p.Trp211Ter) rs868953318

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