ClinVar Miner

List of variants in gene SLC12A6 reported as not provided for Agenesis of the corpus callosum with peripheral neuropathy

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001365088.1(SLC12A6):c.3031C>T (p.Arg1011Ter) rs121908427 0.00001
NM_001365088.1(SLC12A6):c.1478_1485del (p.Phe493fs) rs515726218
NM_001365088.1(SLC12A6):c.1576A>G (p.Thr526Ala) rs1555379629
NM_001365088.1(SLC12A6):c.1584_1585delinsG (p.Phe529fs) rs515726216
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter) rs121908428
NM_001365088.1(SLC12A6):c.2032dup (p.Tyr678fs) rs515726217
NM_001365088.1(SLC12A6):c.2436+1del rs515726215

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