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

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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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.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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