List of variants in gene SLC12A3 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: 107

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HGVS	dbSNP	gnomAD frequency
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)	rs146632606	0.00102
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro)	rs147200024	0.00048
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)	rs121909379	0.00018
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)	rs140012781	0.00014
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)	rs121909380	0.00011
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp)	rs150046661	0.00011
NM_001126108.2(SLC12A3):c.602-16G>A	rs750901478	0.00009
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)	rs202114767	0.00008
NM_001126108.2(SLC12A3):c.1742T>C (p.Met581Thr)	rs146191537	0.00007
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met)	rs187885782	0.00006
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg)	rs752101663	0.00005
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg)	rs374163823	0.00004
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln)	rs768527231	0.00004
NM_001126108.2(SLC12A3):c.457G>A (p.Val153Met)	rs779074538	0.00004
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)	rs140551719	0.00004
NM_001126108.2(SLC12A3):c.1096-1G>A	rs749463414	0.00003
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu)	rs779160677	0.00003
NM_001126108.2(SLC12A3):c.2599G>A (p.Gly867Ser)	rs370301695	0.00003
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)	rs568513106	0.00003
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu)	rs778585043	0.00002
NM_001126108.2(SLC12A3):c.1075A>G (p.Asn359Asp)	rs781030242	0.00002
NM_001126108.2(SLC12A3):c.1925+1G>A	rs1401379546	0.00002
NM_001126108.2(SLC12A3):c.2721-1G>A	rs761242621	0.00002
NM_001126108.2(SLC12A3):c.1326C>G (p.Asn442Lys)	rs775232139	0.00001
NM_001126108.2(SLC12A3):c.1388G>A (p.Gly463Glu)	rs1375515522	0.00001
NM_001126108.2(SLC12A3):c.1444-2A>G	rs1460119539	0.00001
NM_001126108.2(SLC12A3):c.1919A>G (p.Asn640Ser)	rs886039754	0.00001
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys)	rs747249619	0.00001
NM_001126108.2(SLC12A3):c.2420-2A>G	rs776181500	0.00001
NM_001126108.2(SLC12A3):c.2516A>T (p.Asp839Val)	rs1467657889	0.00001
NM_001126108.2(SLC12A3):c.2548C>T (p.Leu850Phe)	rs765240540	0.00001
NM_001126108.2(SLC12A3):c.2623G>A (p.Glu875Lys)	rs1441228030	0.00001
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln)	rs369360334	0.00001
NM_001126108.2(SLC12A3):c.283-2A>C	rs377456965	0.00001
NM_001126108.2(SLC12A3):c.460A>T (p.Ile154Phe)	rs748547209	0.00001
NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp)	rs1041531529	0.00001
NM_001126108.2(SLC12A3):c.557G>A (p.Gly186Asp)	rs759426055	0.00001
NC_000016.9:g.(?_56911979)_(56927219_?)dup
NC_000016.9:g.(?_56921827)_(56927219_?)dup
NM_001126108.2(SLC12A3):c.1000C>G (p.Arg334Gly)
NM_001126108.2(SLC12A3):c.1001G>A (p.Arg334Gln)
NM_001126108.2(SLC12A3):c.1045C>G (p.Pro349Ala)
NM_001126108.2(SLC12A3):c.1096-110_1119delinsCAT
NM_001126108.2(SLC12A3):c.1096-2A>G	rs2055189357
NM_001126108.2(SLC12A3):c.1121G>T (p.Gly374Val)
NM_001126108.2(SLC12A3):c.1195C>G (p.Arg399Gly)
NM_001126108.2(SLC12A3):c.1196G>A (p.Arg399His)	rs13306668
NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu)	rs13306668
NM_001126108.2(SLC12A3):c.1261T>G (p.Cys421Gly)	rs28936387
NM_001126108.2(SLC12A3):c.1288T>A (p.Cys430Ser)
NM_001126108.2(SLC12A3):c.1335+1G>A	rs757471117
NM_001126108.2(SLC12A3):c.1335+1G>C	rs757471117
NM_001126108.2(SLC12A3):c.1335+2T>C	rs2144711826
NM_001126108.2(SLC12A3):c.1336-1G>A	rs2144712491
NM_001126108.2(SLC12A3):c.1390G>C (p.Ala464Pro)	rs201945662
NM_001126108.2(SLC12A3):c.1400C>T (p.Ser467Phe)
NM_001126108.2(SLC12A3):c.1424C>T (p.Ser475Phe)
NM_001126108.2(SLC12A3):c.1457A>C (p.Asp486Ala)
NM_001126108.2(SLC12A3):c.1618T>C (p.Tyr540His)
NM_001126108.2(SLC12A3):c.1670-2A>G
NM_001126108.2(SLC12A3):c.1742T>A (p.Met581Lys)	rs146191537
NM_001126108.2(SLC12A3):c.1763C>A (p.Ala588Glu)
NM_001126108.2(SLC12A3):c.1825+1G>A
NM_001126108.2(SLC12A3):c.1844C>G (p.Ser615Trp)	rs779160677
NM_001126108.2(SLC12A3):c.184G>C (p.Asp62His)
NM_001126108.2(SLC12A3):c.185A>T (p.Asp62Val)
NM_001126108.2(SLC12A3):c.1925+2T>A
NM_001126108.2(SLC12A3):c.1926-377_2121del
NM_001126108.2(SLC12A3):c.2030T>G (p.Val677Gly)
NM_001126108.2(SLC12A3):c.20_21del (p.Thr7fs)	rs750710315
NM_001126108.2(SLC12A3):c.2178+1G>A
NM_001126108.2(SLC12A3):c.2178+1G>T	rs2144730439
NM_001126108.2(SLC12A3):c.2186G>A (p.Gly729Asp)	rs373901523
NM_001126108.2(SLC12A3):c.2191G>T (p.Gly731Trp)
NM_001126108.2(SLC12A3):c.2204C>G (p.Pro735Arg)
NM_001126108.2(SLC12A3):c.2285+2T>C	rs764220175
NM_001126108.2(SLC12A3):c.2368+2del
NM_001126108.2(SLC12A3):c.2369-1G>A
NM_001126108.2(SLC12A3):c.2369-2A>G
NM_001126108.2(SLC12A3):c.2521+1G>T	rs557772454
NM_001126108.2(SLC12A3):c.2522-2A>C
NM_001126108.2(SLC12A3):c.2522-2del	rs2144748104
NM_001126108.2(SLC12A3):c.2545C>T (p.Leu849Phe)
NM_001126108.2(SLC12A3):c.2598_2599delinsTA (p.Gly867Ser)
NM_001126108.2(SLC12A3):c.2660G>C (p.Arg887Pro)
NM_001126108.2(SLC12A3):c.2663T>C (p.Leu888Pro)	rs764833797
NM_001126108.2(SLC12A3):c.2720+2T>G
NM_001126108.2(SLC12A3):c.2721-2A>C
NM_001126108.2(SLC12A3):c.2857-1G>A	rs2144772233
NM_001126108.2(SLC12A3):c.2864G>C (p.Arg955Pro)
NM_001126108.2(SLC12A3):c.2899T>A (p.Ser967Thr)
NM_001126108.2(SLC12A3):c.403C>G (p.Arg135Gly)
NM_001126108.2(SLC12A3):c.404G>A (p.Arg135His)	rs769047841
NM_001126108.2(SLC12A3):c.429+1_429+28del	rs2144682680
NM_001126108.2(SLC12A3):c.433C>A (p.Arg145Ser)	rs148945966
NM_001126108.2(SLC12A3):c.502_505+3delinsT
NM_001126108.2(SLC12A3):c.533C>G (p.Ser178Trp)
NM_001126108.2(SLC12A3):c.547_548dup (p.Ile184fs)	rs770513014
NM_001126108.2(SLC12A3):c.601+1G>C
NM_001126108.2(SLC12A3):c.602-1G>A	rs2055071377
NM_001126108.2(SLC12A3):c.626G>C (p.Arg209Pro)	rs758035631
NM_001126108.2(SLC12A3):c.635G>T (p.Gly212Val)	rs1202006117
NM_001126108.2(SLC12A3):c.647G>A (p.Gly216Glu)
NM_001126108.2(SLC12A3):c.676G>A (p.Ala226Thr)
NM_001126108.2(SLC12A3):c.676G>T (p.Ala226Ser)
NM_001126108.2(SLC12A3):c.852+1G>A	rs2055084531
NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala)	rs748920885

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