ClinVar Miner

List of variants in gene ATRX reported as likely pathogenic for Inborn genetic diseases

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_000489.3(ATRX):c.6149T>C (p.Ile2050Thr) rs122445110
NM_000489.5(ATRX):c.740A>G (p.Asn247Ser) rs797044865

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