List of variants studied for Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro)	rs200530055	0.00029
NM_001383.6(DPH1):c.320A>G (p.Tyr107Cys)	rs772969956	0.00001
NM_001383.6(DPH1):c.274del (p.Glu92fs)	rs756128712
NM_001383.6(DPH1):c.2T>A (p.Met1Lys)	rs757167361
NM_001383.6(DPH1):c.476T>C (p.Leu159Pro)	rs2067429826
NM_001383.6(DPH1):c.686T>C (p.Leu229Pro)	rs730882250

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