ClinVar Miner

List of variants in gene TLK2 reported as pathogenic for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp) rs1283838287 0.00003
NM_006852.6(TLK2):c.1121+1G>A rs2146617330
NM_006852.6(TLK2):c.1357G>T (p.Glu453Ter) rs2081105269
NM_006852.6(TLK2):c.1366A>T (p.Lys456Ter) rs2146767502
NM_006852.6(TLK2):c.1460+2T>G rs1555651572
NM_006852.6(TLK2):c.1550+1G>A rs2147105351
NM_006852.6(TLK2):c.1586A>G (p.Asp529Gly) rs2082811958
NM_006852.6(TLK2):c.1651C>T (p.Gln551Ter) rs1568003569
NM_006852.6(TLK2):c.1720+1G>T rs1555660806
NM_006852.6(TLK2):c.1784C>T (p.Ser595Leu) rs2082914686
NM_006852.6(TLK2):c.181C>T (p.Arg61Ter) rs1567844041
NM_006852.6(TLK2):c.202G>T (p.Glu68Ter) rs1567844114
NM_006852.6(TLK2):c.2092C>T (p.Arg698Ter) rs1555669421
NM_006852.6(TLK2):c.2107C>T (p.Arg703Ter) rs1598940393
NM_006852.6(TLK2):c.267+1G>A
NM_006852.6(TLK2):c.364C>T (p.Arg122Ter) rs1567870541
NM_006852.6(TLK2):c.36del (p.Gln13fs) rs2144334211
NM_006852.6(TLK2):c.37C>T (p.Gln13Ter) rs1567758622
NM_006852.6(TLK2):c.777C>A (p.Tyr259Ter) rs1567920106
NM_006852.6(TLK2):c.784C>T (p.Arg262Ter) rs1567920209
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp) rs1555639254
NM_006852.6(TLK2):c.989C>A (p.Ser330Ter) rs1555644480

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