ClinVar Miner

List of variants reported as pathogenic for Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 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_001303256.3(MORC2):c.259T>C (p.Ser87Pro)	rs2147284796
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys)	rs2040817364

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