ClinVar Miner

List of variants reported as uncertain significance for Intellectual disability-hypotonic facies syndrome, X-linked, 1 by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg)	rs929951326	0.00001
NM_000489.6(ATRX):c.6003G>C (p.Trp2001Cys)	rs1557082399

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