List of variants in gene combination DPH2, LOC126805726 reported as pathogenic for Developmental delay with short stature, dysmorphic facial features, and sparse hair 2

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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: 3

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HGVS	dbSNP	gnomAD frequency
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_001384.5(DPH2):c.922C>T (p.Gln308Ter)	rs755058688	0.00001

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