ClinVar Miner

List of variants reported as uncertain significance for Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 by Baylor Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001383.6(DPH1):c.1256C>G (p.Ser419Trp)
NM_001383.6(DPH1):c.155A>G (p.Asn52Ser)
NM_001383.6(DPH1):c.322G>A (p.Gly108Arg)
NM_001383.6(DPH1):c.786_788del (p.Tyr263del)

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