ClinVar Miner

List of variants studied for alpha thalassemia-X-linked intellectual disability syndrome by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
ATRX, IVSAS, T-A, -10
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.4950G>T (p.Lys1650Asn) rs122445095
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.6250T>C (p.Tyr2084His) rs122445097
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.751A>G (p.Lys251Glu) rs1569539477

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