ClinVar Miner

List of variants reported as likely pathogenic for Microcephaly, short stature, and limb abnormalities by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_017613.4(DONSON):c.670C>T (p.Pro224Ser)	rs1028163227	0.00003
NM_017613.4(DONSON):c.876C>G (p.Phe292Leu)	rs779803447

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