ClinVar Miner

List of variants in gene SLC12A1 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311 0.99751
NM_000338.3(SLC12A1):c.1685-237dup rs11417784 0.99040
NM_000338.3(SLC12A1):c.2296-21A>G rs1484551 0.98993
NM_000338.3(SLC12A1):c.1453-63G>A rs8028035 0.95095
NM_000338.3(SLC12A1):c.725-271T>G rs1484548 0.91191
NM_000338.3(SLC12A1):c.*1084A>T rs12438818 0.90329
NM_000338.3(SLC12A1):c.*110G>T rs8025278 0.82844
NM_000338.3(SLC12A1):c.3165-174T>C rs3858902 0.82844
NM_000338.3(SLC12A1):c.*284A>G rs12902028 0.82288
NM_000338.3(SLC12A1):c.1453-80A>T rs11636073 0.69259
NM_000338.3(SLC12A1):c.1685-72G>A rs2279365 0.61540
NM_000338.3(SLC12A1):c.1453-322C>A rs12904042 0.59442
NM_000338.3(SLC12A1):c.1685-259A>G rs8033965 0.48832
NM_000338.3(SLC12A1):c.1614T>C (p.Tyr538=) rs6493311 0.37595
NM_000338.3(SLC12A1):c.1786+231G>A rs2279367 0.37398
NM_000338.3(SLC12A1):c.1943-32T>C rs2291340 0.36234
NM_000338.3(SLC12A1):c.2485+164T>C rs6493315 0.34889
NM_000338.3(SLC12A1):c.2960+22A>C rs2291342 0.31966
NM_000338.3(SLC12A1):c.2960+267T>G rs7174051 0.31850
NM_000338.3(SLC12A1):c.1786+154G>A rs2279366 0.30080
NM_000338.3(SLC12A1):c.2762-29A>T rs12442530 0.27246
NM_000338.3(SLC12A1):c.2961-70C>T rs35405890 0.26733
NM_000338.3(SLC12A1):c.3164+275T>C rs11855410 0.23763
NM_000338.3(SLC12A1):c.725-285G>A rs60545295 0.18659
NM_000338.3(SLC12A1):c.1087+285T>C rs57230506 0.10780
NM_000338.3(SLC12A1):c.1684+149G>A rs8033546 0.06014
NM_000338.3(SLC12A1):c.628+146T>C rs77846911 0.05658
NM_000338.3(SLC12A1):c.628+159G>C rs78681617 0.05603
NM_000338.3(SLC12A1):c.2630-169T>C rs113159458 0.05058
NM_000338.3(SLC12A1):c.-136A>G rs35787656 0.04490
NM_000338.3(SLC12A1):c.1300+105G>A rs34059983 0.03574
NM_000338.3(SLC12A1):c.*126T>C rs7165179 0.03546
NM_000338.3(SLC12A1):c.1088-253A>G rs113355707 0.03133
NM_000338.3(SLC12A1):c.2486-109C>G rs34028279 0.02915
NM_000338.3(SLC12A1):c.1943-255G>A rs16960713 0.02780
NM_000338.3(SLC12A1):c.2485+271G>A rs34396738 0.02617
NM_000338.3(SLC12A1):c.2155-31G>A rs28476729 0.02410
NM_000338.3(SLC12A1):c.3164+130A>G rs74011996 0.02302
NM_000338.3(SLC12A1):c.2296-124T>C rs34110925 0.02231
NM_000338.3(SLC12A1):c.2296-157C>T rs36123824 0.02230
NM_000338.3(SLC12A1):c.3097-261T>G rs7174935 0.02092
NM_000338.3(SLC12A1):c.*101C>A rs55707440 0.01951
NM_000338.3(SLC12A1):c.*300T>C rs78562329 0.01932
NM_000338.3(SLC12A1):c.1786+122A>G rs35432556 0.01835
NM_000338.3(SLC12A1):c.975+30A>T rs145745760 0.00790
NM_000338.3(SLC12A1):c.2630-7G>A rs34063058 0.00590
NM_000338.3(SLC12A1):c.2296-6G>T rs34047900 0.00478
NM_000338.3(SLC12A1):c.2630-22A>T rs189691314 0.00449
NM_000338.3(SLC12A1):c.71G>A (p.Ser24Asn) rs35342218 0.00419
NM_000338.3(SLC12A1):c.1300+12G>A rs147511178 0.00364
NM_000338.3(SLC12A1):c.2198C>T (p.Ala733Val) rs141858745 0.00348
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_000338.3(SLC12A1):c.415G>A (p.Ala139Thr) rs144128875 0.00249
NM_000338.3(SLC12A1):c.2067G>A (p.Gly689=) rs35783293 0.00245
NM_000338.3(SLC12A1):c.2210C>T (p.Ala737Val) rs78648980 0.00172
NM_000338.3(SLC12A1):c.2481G>A (p.Val827=) rs145469327 0.00153
NM_000338.3(SLC12A1):c.2199G>A (p.Ala733=) rs150609105 0.00148
NM_000338.3(SLC12A1):c.1476C>T (p.Phe492=) rs138588696 0.00142
NM_000338.3(SLC12A1):c.2787C>T (p.Ile929=) rs145464740 0.00140
NM_000338.3(SLC12A1):c.2160G>A (p.Pro720=) rs34820738 0.00137
NM_000338.3(SLC12A1):c.189G>A (p.Arg63=) rs35240149 0.00136
NM_000338.3(SLC12A1):c.828G>A (p.Val276=) rs3825960 0.00131
NM_000338.3(SLC12A1):c.2943T>C (p.Ile981=) rs139832082 0.00103
NM_000338.3(SLC12A1):c.695C>T (p.Ala232Val) rs188295259 0.00101
NM_000338.3(SLC12A1):c.1560+10G>A rs200934309 0.00082
NM_000338.3(SLC12A1):c.3096+7A>T rs200662267 0.00064
NM_000338.3(SLC12A1):c.708C>T (p.Asn236=) rs141106709 0.00058
NM_000338.3(SLC12A1):c.2095G>A (p.Asp699Asn) rs528775721 0.00029
NM_000338.3(SLC12A1):c.2209G>A (p.Ala737Thr) rs138382420 0.00026
NM_000338.3(SLC12A1):c.1216-13T>A rs200223149 0.00021
NM_000338.3(SLC12A1):c.1998T>C (p.Asn666=) rs200417237 0.00020
NM_000338.3(SLC12A1):c.1536T>C (p.Leu512=) rs140636270 0.00006
NM_000338.3(SLC12A1):c.-186-28C>T rs16960656
NM_000338.3(SLC12A1):c.1088-112dup rs397948995
NM_000338.3(SLC12A1):c.1216-5del rs768258913
NM_000338.3(SLC12A1):c.1453-126AAC[5] rs10679509
NM_000338.3(SLC12A1):c.1684+23del rs2041595999
NM_000338.3(SLC12A1):c.1685-292dup rs11417783
NM_000338.3(SLC12A1):c.2042+244G>A rs74011991
NM_000338.3(SLC12A1):c.2043-9del rs112495679
NM_000338.3(SLC12A1):c.2043-9dup rs112495679
NM_000338.3(SLC12A1):c.2402+219C>A rs8028210
NM_000338.3(SLC12A1):c.2874-11del rs760703327
NM_000338.3(SLC12A1):c.2874-138C>A rs2291341
NM_000338.3(SLC12A1):c.3165-100dup rs35095948
NM_000338.3(SLC12A1):c.3165-101_3165-100dup rs35095948
NM_000338.3(SLC12A1):c.3165-102_3165-100dup rs35095948
NM_000338.3(SLC12A1):c.3165-103_3165-100dup rs35095948
NM_000338.3(SLC12A1):c.3165-16del rs2505232996
NM_000338.3(SLC12A1):c.864+24del rs1567311272

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