ClinVar Miner

List of variants studied for agenesis of the corpus callosum with peripheral neuropathy by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001365088.1(SLC12A6):c.2925G>A (p.Val975=) rs112835706 0.00711
NM_001365088.1(SLC12A6):c.318C>T (p.Asp106=) rs116086579 0.00575
NM_001365088.1(SLC12A6):c.2935-7A>G rs184053916 0.00465
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509 0.00245
NM_001365088.1(SLC12A6):c.2613C>T (p.Arg871=) rs144297460 0.00048
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=) rs145775351 0.00028
NM_001365088.1(SLC12A6):c.1825-16T>C rs763005505 0.00002
NM_001365088.1(SLC12A6):c.316+6G>C rs1894227805

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