ClinVar Miner

List of variants in gene SLC12A6 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (130):
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Total variants: 9
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HGVS dbSNP
NM_001365088.1(SLC12A6):c.1118+1G>A rs762730861
NM_001365088.1(SLC12A6):c.1616G>A (p.Gly539Asp)
NM_001365088.1(SLC12A6):c.1970del (p.Val657fs) rs1555378419
NM_001365088.1(SLC12A6):c.2028_2029insT (p.Arg677fs)
NM_001365088.1(SLC12A6):c.2436+1del rs515726215
NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs) rs606231158
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) rs606231229
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys) rs121908429
NM_001365088.1(SLC12A6):c.901del (p.Ile301fs) rs606231157

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