ClinVar Miner

List of variants in gene SLC12A6 reported as pathogenic for agenesis of the corpus callosum with peripheral neuropathy

Included ClinVar conditions (1):
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001365088.1(SLC12A6):c.776del (p.Ala259fs) rs776790336 0.00005
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) rs606231229 0.00003
NM_001365088.1(SLC12A6):c.2230C>T (p.Arg744Ter) rs751184319 0.00002
NM_001365088.1(SLC12A6):c.2043-2A>G rs1372841592 0.00001
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter) rs1057516262 0.00001
NM_001365088.1(SLC12A6):c.3031C>T (p.Arg1011Ter) rs121908427 0.00001
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter) rs199747285 0.00001
NM_001365088.1(SLC12A6):c.1118+1G>A rs762730861
NM_001365088.1(SLC12A6):c.1151C>G (p.Ser384Ter) rs1892451015
NM_001365088.1(SLC12A6):c.1478_1485del (p.Phe493fs) rs515726218
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
NM_001365088.1(SLC12A6):c.250dup (p.His84fs) rs1057518713
NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs) rs606231158
NM_001365088.1(SLC12A6):c.3321del (p.Asn1107fs)
NM_001365088.1(SLC12A6):c.571_572dup (p.Tyr192fs) rs775111365
NM_001365088.1(SLC12A6):c.901del (p.Ile301fs) rs606231157

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