ClinVar Miner

List of variants reported as likely pathogenic for Mental retardation, X-linked, syndromic 33

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Total variants: 14
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HGVS dbSNP
NM_004606.5(TAF1):c.1520A>G (p.Asp507Gly) rs1602481623
NM_004606.5(TAF1):c.1979G>A (p.Gly660Asp) rs1602489684
NM_004606.5(TAF1):c.2120G>A (p.Arg707Gln)
NM_004606.5(TAF1):c.2530C>T (p.Arg844Trp)
NM_004606.5(TAF1):c.2608C>T (p.Arg870Cys) rs1602506017
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.3700C>T (p.Arg1234Trp) rs1602538353
NM_004606.5(TAF1):c.3973G>A (p.Val1325Ile) rs1131691982
NM_004606.5(TAF1):c.4226C>T (p.Pro1409Leu) rs1555980523
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.4520C>T (p.Ala1507Val) rs1602624950

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