ClinVar Miner

List of variants reported as uncertain significance for Familial hypokalemia-hypomagnesemia by Natera, Inc.

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.928G>A (p.Glu310Lys) rs146834675 0.00213
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
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.966G>A (p.Ala322=) rs149172580 0.00072
NM_001126108.2(SLC12A3):c.723C>T (p.Thr241=) rs149259406 0.00069
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro) rs147200024 0.00048
NM_001126108.2(SLC12A3):c.2470T>A (p.Ser824Thr) rs146845953 0.00038
NM_001126108.2(SLC12A3):c.1180+10C>T rs368574873 0.00027
NM_001126108.2(SLC12A3):c.742-6C>T rs370741134 0.00027
NM_001126108.2(SLC12A3):c.408C>T (p.Phe136=) rs142561570 0.00026
NM_001126108.2(SLC12A3):c.1833T>C (p.Asn611=) rs368198835 0.00019
NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg) rs201850644 0.00019
NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=) rs150378634 0.00014
NM_001126108.2(SLC12A3):c.1797C>T (p.Leu599=) rs777125875 0.00006
NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=) rs370145822 0.00005
NM_001126108.2(SLC12A3):c.2963C>T (p.Ser988Leu) rs141867836 0.00004
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu) rs778585043 0.00002
NM_001126108.2(SLC12A3):c.760G>A (p.Val254Met) rs751725614 0.00002
NM_001126108.2(SLC12A3):c.1911C>T (p.His637=) rs1168785341 0.00001
NM_001126108.2(SLC12A3):c.3062A>G (p.Gln1021Arg) rs762026283 0.00001
NM_001126108.2(SLC12A3):c.391G>A (p.Glu131Lys) rs199745548 0.00001
NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp) rs1041531529 0.00001
NM_001126108.2(SLC12A3):c.56G>A (p.Arg19His) rs776593495 0.00001
NM_001126108.2(SLC12A3):c.2025C>G (p.Gly675=) rs1232012807
NM_001126108.2(SLC12A3):c.2634-9G>A rs1596944843
NM_001126108.2(SLC12A3):c.2798T>A (p.Met933Lys) rs777021735
NM_001126108.2(SLC12A3):c.2937A>T (p.Ile979=) rs1596964738
NM_001126108.2(SLC12A3):c.345T>C (p.Asp115=) rs1596885818
NM_001126108.2(SLC12A3):c.450T>G (p.Ile150Met) rs143714318
NM_001126108.2(SLC12A3):c.741+8C>G rs200257610
NM_001126108.2(SLC12A3):c.852+7_852+9del rs758702370

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