ClinVar Miner

List of variants reported as pathogenic for agenesis of the corpus callosum with peripheral neuropathy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (1):

Agenesis of the corpus callosum with peripheral neuropathy

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Minimum conflict level: Report conflict between different conditions
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_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter)	rs606231229	0.00003
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter)	rs121908428
NM_001365088.1(SLC12A6):c.2436+1del	rs515726215

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