"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SLC12A3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 562448	NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro)	SLC12A3 (A13P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3380393	NM_001126108.2(SLC12A3):c.293G>A (p.Arg98Lys)	SLC12A3 (R97K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1068374	NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys)	SLC12A3 (R134C +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +2 more	GConflicting classifications of pathogenicity
Select item 498813	NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)	SLC12A3 (A322V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 208612	NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	SLC12A3 (G741R +1 more)	Single nucleotide variant (missense variant)	Muscle weakness +6 more	GPathogenic/Likely pathogenic
Select item 2153703	NM_001126108.2(SLC12A3):c.2710C>T (p.Arg904Trp)	SLC12A3 (R912W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar