ClinVar Miner

List of variants in gene ATRX reported as likely pathogenic 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: 36
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met) rs122445106 0.00001
NC_000023.10:g.(76940499_76944310)_(76954118_76972607)del
NC_000023.10:g.(?_76937002)_(76972730_?)dup
NC_000023.10:g.(?_76953051)_(76954137_?)dup
NM_000489.6(ATRX):c.1396A>T (p.Arg466Ter)
NM_000489.6(ATRX):c.2422C>T (p.Arg808Ter) rs891068548
NM_000489.6(ATRX):c.4825C>T (p.His1609Tyr)
NM_000489.6(ATRX):c.485-1G>A rs2148657465
NM_000489.6(ATRX):c.485-2A>T
NM_000489.6(ATRX):c.4957-4A>G rs1602979818
NM_000489.6(ATRX):c.5048A>G (p.Tyr1683Cys) rs1602979414
NM_000489.6(ATRX):c.5080A>G (p.Asn1694Asp) rs2068193669
NM_000489.6(ATRX):c.5281A>G (p.Met1761Val) rs2148260943
NM_000489.6(ATRX):c.5368G>A (p.Ala1790Thr)
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000489.6(ATRX):c.5405A>C (p.Lys1802Thr) rs1602876401
NM_000489.6(ATRX):c.5449-7A>G rs2067371776
NM_000489.6(ATRX):c.5540A>G (p.Tyr1847Cys) rs1057521987
NM_000489.6(ATRX):c.565C>T (p.His189Tyr) rs2148656473
NM_000489.6(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.6(ATRX):c.569C>T (p.Pro190Leu) rs1057518708
NM_000489.6(ATRX):c.6104A>G (p.Asp2035Gly) rs122445096
NM_000489.6(ATRX):c.6127T>C (p.Ser2043Pro)
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000489.6(ATRX):c.6254G>T (p.Arg2085Leu) rs1057517948
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp) rs1057517707
NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr) rs122445111
NM_000489.6(ATRX):c.671C>T (p.Ala224Val)
NM_000489.6(ATRX):c.6743T>C (p.Ile2248Thr) rs2147761759
NM_000489.6(ATRX):c.6793G>A (p.Glu2265Lys)
NM_000489.6(ATRX):c.7192C>T (p.Gln2398Ter) rs1569515457
NM_000489.6(ATRX):c.729C>G (p.Cys243Trp) rs1057524153
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)
NM_000489.6(ATRX):c.77C>A (p.Ser26Ter) rs2073481839
NM_000489.6(ATRX):c.839G>A (p.Cys280Tyr) rs2071439399

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