ClinVar Miner

List of variants in gene ATRX reported as pathogenic for alpha-thalassemia-related diseases

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
ATRX, IVSAS, T-A, -10
NC_000023.10:g.(?_76944291)_(76972740_?)del
NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.5(ATRX):c.20+1G>A rs587776756
NM_000489.5(ATRX):c.236C>G (p.Ser79Ter) rs122445107
NM_000489.5(ATRX):c.4317G>A (p.Lys1439=) rs1569535642
NM_000489.5(ATRX):c.4826A>G (p.His1609Arg) rs122445093
NM_000489.5(ATRX):c.4840T>C (p.Cys1614Arg) rs122445094
NM_000489.5(ATRX):c.4862C>T (p.Thr1621Met) rs122445106
NM_000489.5(ATRX):c.4865C>T (p.Ala1622Val) rs1135401793
NM_000489.5(ATRX):c.4950G>T (p.Lys1650Asn) rs122445095
NM_000489.5(ATRX):c.5039T>C (p.Ile1680Thr) rs1557106482
NM_000489.5(ATRX):c.5225G>A (p.Arg1742Lys) rs122445104
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.5(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.5(ATRX):c.6104A>T (p.Asp2035Val) rs122445096
NM_000489.5(ATRX):c.6122G>A (p.Ser2041Asn) rs1060499658
NM_000489.5(ATRX):c.6250T>C (p.Tyr2084His) rs122445097
NM_000489.5(ATRX):c.6392G>A (p.Arg2131Gln) rs122445101
NM_000489.5(ATRX):c.6488A>G (p.Tyr2163Cys) rs122445098
NM_000489.5(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.5(ATRX):c.7162G>T (p.Glu2388Ter) rs122445100
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.5(ATRX):c.751A>G (p.Lys251Glu) rs1569539477

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