ClinVar Miner

List of variants in gene TLK2 studied for intellectual disability, autosomal dominant 57

Included ClinVar conditions (2):
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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_006852.6(TLK2):c.1872A>G (p.Pro624=) rs8078132 0.49542
NM_006852.6(TLK2):c.1369-8C>T rs1413660720 0.00001
NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp) rs1283838287 0.00001
NM_006852.6(TLK2):c.1648A>T (p.Met550Leu) rs754747576 0.00001
NM_006852.6(TLK2):c.2133G>C (p.Gln711His) rs746559284 0.00001
NM_006852.6(TLK2):c.362C>T (p.Pro121Leu) rs780493365 0.00001
NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp) rs1567948262
NM_006852.6(TLK2):c.1016G>A (p.Arg339Gln) rs1567948287
NM_006852.6(TLK2):c.1016G>C (p.Arg339Pro) rs1567948287
NM_006852.6(TLK2):c.1121+1G>A rs2146617330
NM_006852.6(TLK2):c.1147C>T (p.Gln383Ter)
NM_006852.6(TLK2):c.1195G>A (p.Ala399Thr) rs2545778350
NM_006852.6(TLK2):c.1273G>A (p.Glu425Lys) rs1567959483
NM_006852.6(TLK2):c.1286+1G>A
NM_006852.6(TLK2):c.1310A>G (p.Asn437Ser) rs2545795445
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.1412A>G (p.His471Arg) rs1567974030
NM_006852.6(TLK2):c.1415del (p.Gln472fs)
NM_006852.6(TLK2):c.1456_1458del (p.His486del) rs2146902141
NM_006852.6(TLK2):c.1460+2T>G rs1555651572
NM_006852.6(TLK2):c.1480C>T (p.Arg494Trp) rs763883046
NM_006852.6(TLK2):c.1487A>G (p.His496Arg) rs1567995650
NM_006852.6(TLK2):c.1511T>G (p.Ile504Arg) rs2545971109
NM_006852.6(TLK2):c.154-1G>A
NM_006852.6(TLK2):c.1550+1G>A rs2147105351
NM_006852.6(TLK2):c.1561G>A (p.Val521Ile)
NM_006852.6(TLK2):c.1579G>A (p.Gly527Arg) rs2147165095
NM_006852.6(TLK2):c.1586A>G (p.Asp529Gly) rs2082811958
NM_006852.6(TLK2):c.1589T>C (p.Leu530Pro) rs2546014238
NM_006852.6(TLK2):c.1624G>T (p.Glu542Ter)
NM_006852.6(TLK2):c.1637G>A (p.Arg546Gln) rs2147165727
NM_006852.6(TLK2):c.1651C>T (p.Gln551Ter) rs1568003569
NM_006852.6(TLK2):c.1720+1G>T rs1555660806
NM_006852.6(TLK2):c.1760T>G (p.Ile587Arg) rs2147185286
NM_006852.6(TLK2):c.1783T>C (p.Ser595Pro) rs2546025747
NM_006852.6(TLK2):c.1784C>T (p.Ser595Leu) rs2082914686
NM_006852.6(TLK2):c.1819G>A (p.Asp607Asn) rs1568006217
NM_006852.6(TLK2):c.181C>T (p.Arg61Ter) rs1567844041
NM_006852.6(TLK2):c.1865del (p.Leu622fs)
NM_006852.6(TLK2):c.1971G>C (p.Lys657Asn) rs1413696538
NM_006852.6(TLK2):c.1973C>G (p.Pro658Arg) rs1568018905
NM_006852.6(TLK2):c.202G>T (p.Glu68Ter) rs1567844114
NM_006852.6(TLK2):c.2042A>G (p.Gln681Arg) rs2147284271
NM_006852.6(TLK2):c.2065_2067del (p.Thr689del) rs2147284765
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.2119C>T (p.Arg707Cys) rs2546105613
NM_006852.6(TLK2):c.2170C>T (p.Arg724Ter) rs1568028078
NM_006852.6(TLK2):c.2233A>G (p.Asn745Asp) rs2147361869
NM_006852.6(TLK2):c.267+1G>A rs2545119735
NM_006852.6(TLK2):c.31C>T (p.Arg11Ter) rs2144333874
NM_006852.6(TLK2):c.34C>T (p.Arg12Trp) rs796730233
NM_006852.6(TLK2):c.364C>T (p.Arg122Ter) rs1567870541
NM_006852.6(TLK2):c.367C>T (p.Arg123Ter) rs758726258
NM_006852.6(TLK2):c.36del (p.Gln13fs) rs2144334211
NM_006852.6(TLK2):c.376C>T (p.Gln126Ter)
NM_006852.6(TLK2):c.37C>T (p.Gln13Ter) rs1567758622
NM_006852.6(TLK2):c.416C>T (p.Ala139Val) rs2545298821
NM_006852.6(TLK2):c.585C>A (p.Cys195Ter) rs2146204977
NM_006852.6(TLK2):c.625C>T (p.Gln209Ter)
NM_006852.6(TLK2):c.732T>G (p.Asp244Glu) rs778362433
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.81+2del rs2544508436
NM_006852.6(TLK2):c.870G>A (p.Met290Ile) rs1451322597
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp) rs1555639254
NM_006852.6(TLK2):c.890G>T (p.Gly297Val)
NM_006852.6(TLK2):c.989C>A (p.Ser330Ter) rs1555644480

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