ClinVar Miner

List of variants reported for Intellectual disability, X-linked, syndromic 33 by Genome Medicine, Institute for Basic Research in Developmental Disabilities

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Total variants: 36
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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.5599A>T (p.Ser1867Cys) rs753892104 0.00002
NM_004606.5(TAF1):c.4130G>A (p.Arg1377Gln) rs748747814 0.00001
NM_004606.5(TAF1):c.802C>T (p.Arg268Cys) rs1399230018 0.00001
NM_004606.5(TAF1):c.1188TCT[1] (p.Leu398del) rs1602468194
NM_004606.5(TAF1):c.1454T>A (p.Ile485Asn) rs2148276174
NM_004606.5(TAF1):c.1520A>G (p.Asp507Gly) rs1602481623
NM_004606.5(TAF1):c.1726C>T (p.Pro576Ser) rs864321630
NM_004606.5(TAF1):c.1765A>G (p.Ile589Val) rs1602485648
NM_004606.5(TAF1):c.1979G>A (p.Gly660Asp) rs1602489684
NM_004606.5(TAF1):c.2120G>C (p.Arg707Pro) rs1602490113
NM_004606.5(TAF1):c.2305A>G (p.Arg769Gly) rs1602500103
NM_004606.5(TAF1):c.2359T>C (p.Cys787Arg) rs864321628
NM_004606.5(TAF1):c.2557T>G (p.Phe853Val) rs1602504701
NM_004606.5(TAF1):c.2608C>T (p.Arg870Cys) rs1602506017
NM_004606.5(TAF1):c.2773G>A (p.Asp925Asn) rs1555971253
NM_004606.5(TAF1):c.2866G>C (p.Asp956His) rs864321631
NM_004606.5(TAF1):c.2894C>T (p.Ser965Phe) rs1057518019
NM_004606.5(TAF1):c.2975C>T (p.Thr992Ile) rs1602520317
NM_004606.5(TAF1):c.3508C>T (p.Arg1170Cys) rs1569301036
NM_004606.5(TAF1):c.3648A>G (p.Gln1216=) rs2034990430
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp) rs864321629
NM_004606.5(TAF1):c.3700C>T (p.Arg1234Trp) rs1602538353
NM_004606.5(TAF1):c.3950T>C (p.Ile1317Thr) rs864321627
NM_004606.5(TAF1):c.3973G>A (p.Val1325Ile) rs1131691982
NM_004606.5(TAF1):c.3992T>A (p.Ile1331Asn) rs1602549992
NM_004606.5(TAF1):c.4295G>A (p.Arg1432His) rs2148488251
NM_004606.5(TAF1):c.4382A>G (p.Asn1461Ser) rs1602572645
NM_004606.5(TAF1):c.4382A>T (p.Asn1461Ile) rs1602572645
NM_004606.5(TAF1):c.4394A>G (p.His1465Arg) rs1064793874
NM_004606.5(TAF1):c.4489A>C (p.Asn1497His) rs1602624914
NM_004606.5(TAF1):c.4520C>T (p.Ala1507Val) rs1602624950
NM_004606.5(TAF1):c.4666A>G (p.Lys1556Glu) rs1602627327
NM_004606.5(TAF1):c.5304G>C (p.Glu1768Asp) rs1602753978
NM_004606.5(TAF1):c.553A>G (p.Ser185Gly) rs1602459601
NM_004606.5(TAF1):c.892G>A (p.Ala298Thr) rs1602463196

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