ClinVar Miner

List of variants reported as pathogenic for Gitelman syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
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.2554C>T (p.Arg852Cys) rs373899077 0.00011
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924 0.00009
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) rs148038173 0.00008
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val) rs373901523 0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr) rs199849117 0.00008
NM_001126108.2(SLC12A3):c.482G>A (p.Trp161Ter) rs201190064 0.00006
NM_001126108.2(SLC12A3):c.2037+1G>A rs775799617 0.00005
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.179C>T (p.Thr60Met) rs371443644 0.00004
NM_001126108.2(SLC12A3):c.473G>A (p.Arg158Gln) rs1274973729 0.00004
NM_001126108.2(SLC12A3):c.1670-191C>T rs374182921 0.00003
NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His) rs147901432 0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) rs201255508 0.00003
NM_001126108.2(SLC12A3):c.644T>C (p.Leu215Pro) rs780594361 0.00003
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys) rs775931992 0.00002
NM_001126108.2(SLC12A3):c.2717_2720dup (p.His907fs) rs750735794 0.00002
NM_001126108.2(SLC12A3):c.1180+1G>T rs749098014 0.00001
NM_001126108.2(SLC12A3):c.1567G>A (p.Ala523Thr) rs781137708 0.00001
NM_001126108.2(SLC12A3):c.2633+1G>A rs778455414 0.00001
NM_001126108.2(SLC12A3):c.3025C>T (p.Arg1009Ter) rs781209989 0.00001
NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met) rs267607050 0.00001
NM_001126108.2(SLC12A3):c.506-1G>A rs201555148 0.00001
NM_001126108.2(SLC12A3):c.741+1G>A rs1187506921 0.00001
NM_001126108.2(SLC12A3):c.1196_1202dup (p.Ala401_Ser402insTer) rs751871500
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly) rs200697179
NM_001126108.2(SLC12A3):c.1924C>T (p.Arg642Cys) rs200697179
NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs) rs780299444
NM_001126108.2(SLC12A3):c.2533del (p.Leu845fs) rs754378340
NM_001126108.2(SLC12A3):c.2659C>T (p.Arg887Ter) rs747383768
NM_001126108.2(SLC12A3):c.2720+1G>C rs1347239469
NM_001126108.2(SLC12A3):c.283del (p.Gln95fs) rs1555499234
NM_001126108.2(SLC12A3):c.2850_2851del (p.Arg950fs) rs746623621
NM_001126108.2(SLC12A3):c.2866C>T (p.Gln956Ter) rs761692493
NM_001126108.2(SLC12A3):c.334G>T (p.Glu112Ter) rs200219778

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