ClinVar Miner

List of variants in gene ATRX reported as likely pathogenic for Mental retardation-hypotonic facies syndrome X-linked, 1

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Total variants: 4
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NM_000489.5(ATRX):c.6254G>T (p.Arg2085Leu) rs1057517948
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.6(ATRX):c.5080A>G (p.Asn1694Asp)
NM_000489.6(ATRX):c.839G>A (p.Cys280Tyr)

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