ClinVar Miner

Variants in gene SLC12A6 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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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.2043-2A>G rs1372841592 0.00001
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter) rs1057516262 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.2023C>T (p.Arg675Ter) rs121908428
NM_001365088.1(SLC12A6):c.294_295del (p.Glu100fs) rs1292460656
NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs) rs606231158
NM_001365088.1(SLC12A6):c.571_572dup (p.Tyr192fs) rs775111365
NM_001365088.1(SLC12A6):c.901del (p.Ile301fs) rs606231157

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