List of variants reported as pathogenic for developmental delay with short stature, dysmorphic facial features, and sparse hair

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro)	rs200530055	0.00029
NM_001384.5(DPH2):c.1429C>T (p.Arg477Ter)	rs577890255	0.00004
NM_001384.5(DPH2):c.601C>T (p.Arg201Cys)	rs767455462	0.00002
NM_001383.6(DPH1):c.320A>G (p.Tyr107Cys)	rs772969956	0.00001
NM_001384.5(DPH2):c.922C>T (p.Gln308Ter)	rs755058688	0.00001
NM_001383.6(DPH1):c.103G>T (p.Glu35Ter)
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
NM_001383.6(DPH1):c.749+39G>A
NM_001383.6(DPH1):c.919C>T (p.Arg307Ter)

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