GenTIGS

Variants in ClinVar from 539 of 916 Rare Genetic Disorders of GenTIGS

An Autosomal recessive mode(s) within the Nephrological disorders category

Likely pathogenic 1

Pathogenic 2

Pathogenic/Likely pathogenic 3

Variant name	Variant type	GRCH38 location	Germline classification	Molecular consequence	dbSNP_ID	Submitter
NM_001126108.2(SLC12A3):c.2205del (p.Asn736fs)	Deletion	Chr16:56887949	Pathogenic	Frameshift variant		.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_001126108.2(SLC12A3):c.602-16G>A	Single nucleotide variant	Chr16:56870080	Pathogenic/Likely pathogenic	Intron variant	rs750901478	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_001126108.2(SLC12A3):c.1465T>C (p.Tyr489His)	Single nucleotide variant	Chr16:56880151	Likely pathogenic	Missense variant	rs2144714194	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_001126108.2(SLC12A3):c.644T>C (p.Leu215Pro)	Single nucleotide variant	Chr16:56870138	Pathogenic	Missense variant	rs780594361	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu)	Single nucleotide variant	Chr16:56885283	Pathogenic/Likely pathogenic	Missense variant	rs779160677	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys)	Single nucleotide variant	Chr16:56879087	Pathogenic/Likely pathogenic	Missense variant	rs775931992	.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM

Indian Institutes & Variant Submission Overview

Chromosome-wise Variant Distribution