List of variants in gene SLC12A6 reported as likely pathogenic for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_001365088.1(SLC12A6):c.2043-2A>G	rs1372841592	0.00001
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter)	rs199747285	0.00001
NC_000015.9:g.(?_34626043)_(34628739_?)del
NM_001365088.1(SLC12A6):c.1334-1G>C
NM_001365088.1(SLC12A6):c.1492+1G>T
NM_001365088.1(SLC12A6):c.1493-1G>A
NM_001365088.1(SLC12A6):c.1591+2T>A
NM_001365088.1(SLC12A6):c.1616G>A (p.Gly539Asp)	rs1595430425
NM_001365088.1(SLC12A6):c.1649+2T>A
NM_001365088.1(SLC12A6):c.1650-1G>T
NM_001365088.1(SLC12A6):c.2162+2T>A	rs2140669923
NM_001365088.1(SLC12A6):c.2436+2T>C	rs1891579114
NM_001365088.1(SLC12A6):c.271+1G>A
NM_001365088.1(SLC12A6):c.271+2T>C
NM_001365088.1(SLC12A6):c.271+2T>G	rs1890198564
NM_001365088.1(SLC12A6):c.272-2A>G
NM_001365088.1(SLC12A6):c.2744G>A (p.Trp915Ter)
NM_001365088.1(SLC12A6):c.2803-2A>C
NM_001365088.1(SLC12A6):c.2971A>G (p.Thr991Ala)
NM_001365088.1(SLC12A6):c.2995C>T (p.Gln999Ter)
NM_001365088.1(SLC12A6):c.316+1G>A	rs1462170681
NM_001365088.1(SLC12A6):c.317-1G>A
NM_001365088.1(SLC12A6):c.3227+1G>A	rs1057516969
NM_001365088.1(SLC12A6):c.3228-1G>A	rs2140633558
NM_001365088.1(SLC12A6):c.3228-2_3228-1del	rs1444227608
NM_001365088.1(SLC12A6):c.543+1G>A	rs2140756412
NM_001365088.1(SLC12A6):c.543+2T>C
NM_001365088.1(SLC12A6):c.543+2T>G	rs1555381538
NM_001365088.1(SLC12A6):c.691-2A>C
NM_001365088.1(SLC12A6):c.691-2A>T	rs2140734972
NM_001365088.1(SLC12A6):c.877-2A>G

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