ClinVar Miner

List of variants studied for Mental retardation-hypotonic facies syndrome X-linked, 1 by Broad Institute Rare Disease Group,Broad Institute

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Total variants: 3

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HGVS	dbSNP
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser)	rs142094773
NM_000489.5(ATRX):c.5377A>C (p.Thr1793Pro)	rs1569531570
NM_000489.5(ATRX):c.6254G>T (p.Arg2085Leu)	rs1057517948

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