ClinVar Miner

List of variants studied for Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome

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Total variants: 2

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HGVS	dbSNP
NM_001101.5(ACTB):c.219C>G (p.His73Gln)
NM_001101.5(ACTB):c.491C>A (p.Pro164His)

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