ClinVar Miner

List of variants reported as pathogenic for microcephalic osteodysplastic dysplasia, Saul-Wilson type

Included ClinVar conditions (2):

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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_015386.3(COG4):c.1840G>T (p.Glu614Ter)	rs1048764460	0.00006
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg)	rs1555575860
NM_015386.3(COG4):c.1546G>C (p.Gly516Arg)	rs1555575860

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