ClinVar Miner

List of variants in gene TAF1 reported as uncertain significance for X-linked syndromic intellectual disability

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_004606.5(TAF1):c.1237G>A (p.Asp413Asn) rs367907623 0.00009
NM_004606.5(TAF1):c.2257A>G (p.Ile753Val) rs764849779 0.00006
NM_004606.5(TAF1):c.5596G>A (p.Asp1866Asn) rs779974166 0.00005
NM_004606.5(TAF1):c.1417A>G (p.Asn473Asp) rs200177996 0.00002
NM_004606.5(TAF1):c.2617A>G (p.Thr873Ala) rs1358610598 0.00002
NM_004606.5(TAF1):c.2771T>C (p.Ile924Thr) rs1174447128 0.00002
NM_004606.5(TAF1):c.4821+3A>G rs760062431 0.00002
NM_004606.5(TAF1):c.4130G>A (p.Arg1377Gln) rs748747814 0.00001
NM_004606.5(TAF1):c.1291C>T (p.Arg431Cys)
NM_004606.5(TAF1):c.1436G>A (p.Gly479Glu)
NM_004606.5(TAF1):c.1632G>T (p.Gly544=)
NM_004606.5(TAF1):c.2119C>T (p.Arg707Trp) rs2148297957
NM_004606.5(TAF1):c.2120G>C (p.Arg707Pro) rs1602490113
NM_004606.5(TAF1):c.2475G>C (p.Arg825Ser) rs2148336686
NM_004606.5(TAF1):c.2498_2500del (p.Lys833_Ala834delinsThr) rs2148336854
NM_004606.5(TAF1):c.2551G>A (p.Ala851Thr)
NM_004606.5(TAF1):c.2557T>G (p.Phe853Val) rs1602504701
NM_004606.5(TAF1):c.2700+5A>G rs2034394782
NM_004606.5(TAF1):c.2773G>A (p.Asp925Asn) rs1555971253
NM_004606.5(TAF1):c.2806A>G (p.Thr936Ala) rs1014764751
NM_004606.5(TAF1):c.290C>T (p.Ala97Val) rs2032706255
NM_004606.5(TAF1):c.352+7C>T rs2032710993
NM_004606.5(TAF1):c.3992T>A (p.Ile1331Asn) rs1602549992
NM_004606.5(TAF1):c.4108-5C>T rs2148485195
NM_004606.5(TAF1):c.421C>G (p.Pro141Ala) rs1602451776
NM_004606.5(TAF1):c.4315C>G (p.Leu1439Val)
NM_004606.5(TAF1):c.4382A>G (p.Asn1461Ser) rs1602572645
NM_004606.5(TAF1):c.4452+3A>G rs2036334224
NM_004606.5(TAF1):c.448A>G (p.Lys150Glu)
NM_004606.5(TAF1):c.4576-9A>G
NM_004606.5(TAF1):c.4666A>G (p.Lys1556Glu) rs1602627327
NM_004606.5(TAF1):c.5036G>A (p.Ser1679Asn)
NM_004606.5(TAF1):c.5128G>T (p.Ala1710Ser)
NM_004606.5(TAF1):c.5338_5339insGTAATCGATAGCAACATCAG (p.Met1780delinsSerAsnArgTer) rs2038515067
NM_004606.5(TAF1):c.553A>G (p.Ser185Gly) rs1602459601
NM_004606.5(TAF1):c.745G>A (p.Gly249Arg)
NM_004606.5(TAF1):c.892G>A (p.Ala298Thr) rs1602463196

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