List of variants in gene DPH1 reported as likely pathogenic for Developmental delay with short stature, dysmorphic facial features, and sparse hair 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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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.652C>T (p.Arg218Ter)	rs1185902827	0.00001
NM_001383.6(DPH1):c.1086+2dup
NM_001383.6(DPH1):c.686T>C (p.Leu229Pro)	rs730882250

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