ClinVar Miner

List of variants in gene SLC12A3 reported as benign by Invitae

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.791C>G (p.Ala264Gly) rs1529927 0.97710
NM_001126108.2(SLC12A3):c.1670-8T>C rs2304483 0.48985
NM_001126108.2(SLC12A3):c.2924+13C>T rs2289115 0.34518
NM_001126108.2(SLC12A3):c.2721-13T>C rs34772420 0.18153
NM_001126108.2(SLC12A3):c.1395C>T (p.Thr465=) rs5801 0.15318
NM_001126108.2(SLC12A3):c.2857-17G>A rs2289116 0.13711
NM_001126108.2(SLC12A3):c.2142C>T (p.Ala714=) rs5803 0.11388
NM_001126108.2(SLC12A3):c.2179-8C>T rs13306676 0.11191
NM_001126108.2(SLC12A3):c.2598C>T (p.Gly866=) rs5804 0.09125
NM_001126108.2(SLC12A3):c.2711G>A (p.Arg904Gln) rs11643718 0.08381
NM_001126108.2(SLC12A3):c.1884G>A (p.Ser628=) rs5802 0.08069
NM_001126108.2(SLC12A3):c.366A>G (p.Ala122=) rs2304479 0.05592
NM_001126108.2(SLC12A3):c.1023C>T (p.Phe341=) rs2229209 0.04172
NM_001126108.2(SLC12A3):c.1825+9C>A rs35797045 0.03711
NM_001126108.2(SLC12A3):c.2755C>T (p.Arg919Cys) rs12708965 0.03475
NM_001126108.2(SLC12A3):c.1444-17G>A rs71387142 0.03307
NM_001126108.2(SLC12A3):c.1865A>G (p.Asn622Ser) rs61746763 0.01422
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) rs36049418 0.01075
NM_001126108.2(SLC12A3):c.1539C>T (p.Tyr513=) rs146805986 0.00597
NM_001126108.2(SLC12A3):c.2857-6G>A rs117981500 0.00557
NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=) rs111578437 0.00523
NM_001126108.2(SLC12A3):c.2083G>A (p.Gly695Arg) rs36031476 0.00473
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=) rs76750525 0.00433
NM_001126108.2(SLC12A3):c.307C>T (p.Leu103=) rs35005216 0.00257
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=) rs201519016 0.00185
NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=) rs118121751 0.00146
NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=) rs150692587 0.00146
NM_001126108.2(SLC12A3):c.93C>T (p.Pro31=) rs34055681 0.00143
NM_001126108.2(SLC12A3):c.1567+7C>T rs376819753 0.00101
NM_001126108.2(SLC12A3):c.429+9G>A rs375425173 0.00101
NM_001126108.2(SLC12A3):c.1002G>A (p.Arg334=) rs146318329 0.00098
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=) rs35070204 0.00073
NM_001126108.2(SLC12A3):c.966G>A (p.Ala322=) rs149172580 0.00072
NM_001126108.2(SLC12A3):c.723C>T (p.Thr241=) rs149259406 0.00069
NM_001126108.2(SLC12A3):c.2285+8G>A rs199854613 0.00061
NM_001126108.2(SLC12A3):c.1698C>A (p.Asn566Lys) rs757776621 0.00038
NM_001126108.2(SLC12A3):c.1825+5G>A rs368509876 0.00029
NM_001126108.2(SLC12A3):c.1926-10C>G rs375828467 0.00029
NM_001126108.2(SLC12A3):c.2368+8C>A rs140236327 0.00015
NM_001126108.2(SLC12A3):c.1543A>G (p.Ile515Val) rs554432544 0.00003
NM_001126108.2(SLC12A3):c.1176C>T (p.Thr392=) rs117440321
NM_001126108.2(SLC12A3):c.1568-14C>T
NM_001126108.2(SLC12A3):c.2179-7del
NM_001126108.2(SLC12A3):c.2286-18C>T
NM_001126108.2(SLC12A3):c.2522-15del
NM_001126108.2(SLC12A3):c.2857-18C>T rs3816118
NM_001126108.2(SLC12A3):c.430-12dup
NM_001126108.2(SLC12A3):c.741+14del
NM_001126108.2(SLC12A3):c.741+14dup
NM_001126108.2(SLC12A3):c.791= (p.Ala264=)

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