ClinVar Miner

List of variants studied for Pseudohypoaldosteronism type 2B by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_032387.5(WNK4):c.2724G>A (p.Pro908=) rs2290042 0.07579
NM_032387.5(WNK4):c.1641C>T (p.Ala547=) rs9916754 0.07552
NM_032387.5(WNK4):c.2881C>T (p.Pro961Ser) rs2290041 0.07525
NM_032387.5(WNK4):c.1477-13A>G rs61754357 0.02638
NM_032387.5(WNK4):c.2474C>T (p.Pro825Leu) rs56226218 0.02629
NM_032387.5(WNK4):c.239C>A (p.Ala80Asp) rs61754326 0.02196
NM_032387.5(WNK4):c.1719C>T (p.His573=) rs56243382 0.01157
NM_032387.5(WNK4):c.*6G>A rs61755635 0.01155
NM_032387.5(WNK4):c.2672C>T (p.Thr891Met) rs56081375 0.01150
NM_032387.5(WNK4):c.2029C>T (p.Arg677Trp) rs9896991 0.01047
NM_032387.5(WNK4):c.1664C>G (p.Pro555Arg) rs57737815 0.01027
NM_032387.5(WNK4):c.16G>A (p.Ala6Thr) rs61754324 0.01001
NM_032387.5(WNK4):c.3074C>T (p.Pro1025Leu) rs56099549 0.01000
NM_032387.5(WNK4):c.3610C>T (p.Arg1204Cys) rs56116165 0.00695
NM_032387.5(WNK4):c.1653C>T (p.Pro551=) rs55751736 0.00559
NM_032387.5(WNK4):c.945C>T (p.Gly315=) rs61754348 0.00439
NM_032387.5(WNK4):c.2369C>A (p.Thr790Asn) rs56227191 0.00281
NM_032387.5(WNK4):c.2334C>T (p.Leu778=) rs61755621 0.00236
NM_032387.5(WNK4):c.1885C>T (p.Arg629Cys) rs61755600 0.00123
NM_032387.5(WNK4):c.1524T>C (p.Arg508=) rs55879206 0.00099
NM_032387.5(WNK4):c.1888T>C (p.Ser630Pro) rs56030257 0.00076
NM_032387.5(WNK4):c.2476G>A (p.Gly826Ser) rs190384194 0.00070
NM_032387.5(WNK4):c.507C>A (p.Pro169=) rs61754328 0.00063
NM_032387.5(WNK4):c.2207G>A (p.Arg736Gln) rs149389156 0.00061
NM_032387.5(WNK4):c.1523G>A (p.Arg508His) rs55997156 0.00056
NM_032387.5(WNK4):c.1853G>T (p.Cys618Phe) rs143396070 0.00043
NM_032387.5(WNK4):c.1864-11T>C rs61755599 0.00041
NM_032387.5(WNK4):c.-22C>T rs200318202 0.00035
NM_032387.5(WNK4):c.1572G>T (p.Leu524=) rs144084546 0.00033
NM_032387.5(WNK4):c.47C>T (p.Thr16Ile) rs61754325 0.00030
NM_032387.5(WNK4):c.2213G>A (p.Arg738Gln) rs200823152 0.00026
NM_032387.5(WNK4):c.3553C>T (p.Arg1185Cys) rs137853095 0.00024
NM_032387.5(WNK4):c.*148C>T rs556182339 0.00019
NM_032387.5(WNK4):c.679G>T (p.Gly227Trp) rs140897013 0.00019
NM_032387.5(WNK4):c.1414C>G (p.Gln472Glu) rs761294614 0.00016
NM_032387.5(WNK4):c.92C>A (p.Ala31Glu) rs370527167 0.00014
NM_032387.5(WNK4):c.1323A>T (p.Glu441Asp) rs387907562 0.00010
NM_032387.5(WNK4):c.2297A>G (p.Glu766Gly) rs778394259 0.00009
NM_032387.5(WNK4):c.1574G>A (p.Arg525His) rs200182836 0.00008
NM_032387.5(WNK4):c.2030G>A (p.Arg677Gln) rs772583212 0.00008
NM_032387.5(WNK4):c.1855C>T (p.Leu619=) rs757047992 0.00007
NM_032387.5(WNK4):c.2842C>A (p.Leu948Ile) rs372807256 0.00007
NM_032387.5(WNK4):c.1827A>G (p.Pro609=) rs201340788 0.00006
NM_032387.5(WNK4):c.2005C>T (p.Arg669Trp) rs769815091 0.00006
NM_032387.5(WNK4):c.2625A>G (p.Pro875=) rs749781217 0.00006
NM_032387.5(WNK4):c.2481C>T (p.Pro827=) rs200744992 0.00005
NM_032387.5(WNK4):c.1743G>A (p.Ser581=) rs754495845 0.00004
NM_032387.5(WNK4):c.1953C>T (p.Ser651=) rs766220456 0.00004
NM_032387.5(WNK4):c.2348A>G (p.Asn783Ser) rs145613797 0.00004
NM_032387.5(WNK4):c.924C>T (p.Val308=) rs779031905 0.00004
NM_032387.5(WNK4):c.1405C>T (p.Arg469Trp) rs370770635 0.00002
NM_032387.5(WNK4):c.246C>A (p.Asp82Glu) rs373427674 0.00002
NM_032387.5(WNK4):c.2823G>A (p.Leu941=) rs371107660 0.00002
NM_032387.5(WNK4):c.3440C>T (p.Ser1147Leu) rs768159533 0.00002
NM_032387.5(WNK4):c.937C>G (p.Pro313Ala) rs139202412 0.00002
NM_032387.5(WNK4):c.1073T>A (p.Val358Glu) rs1482267302 0.00001
NM_032387.5(WNK4):c.1339G>A (p.Asp447Asn) rs566923583 0.00001
NM_032387.5(WNK4):c.14C>T (p.Pro5Leu) rs577125376 0.00001
NM_032387.5(WNK4):c.2610C>T (p.Pro870=) rs771639017 0.00001
NM_032387.5(WNK4):c.2860C>T (p.Pro954Ser) rs2054652994 0.00001
NM_032387.5(WNK4):c.3432-5C>T rs764350226 0.00001
NM_032387.5(WNK4):c.3523A>G (p.Ile1175Val) rs761259011 0.00001
NM_032387.5(WNK4):c.3632-14C>A rs770224589 0.00001
NM_032387.5(WNK4):c.450G>A (p.Arg150=) rs377745941 0.00001
NM_032387.5(WNK4):c.643C>T (p.Arg215Trp) rs758123242 0.00001
NM_032387.5(WNK4):c.*335C>G rs61755636
NM_032387.5(WNK4):c.*340C>A rs886052954
NM_032387.5(WNK4):c.*370A>G rs1028992331
NM_032387.5(WNK4):c.1357C>T (p.Leu453Phe) rs2054535805
NM_032387.5(WNK4):c.1527A>G (p.Ala509=) rs2054560109
NM_032387.5(WNK4):c.164G>A (p.Arg55His) rs955842877
NM_032387.5(WNK4):c.1666C>A (p.Pro556Thr) rs56003090
NM_032387.5(WNK4):c.1741+9C>G rs2054563885
NM_032387.5(WNK4):c.1801G>T (p.Ala601Ser) rs55781437
NM_032387.5(WNK4):c.1809G>A (p.Gln603=) rs768020150
NM_032387.5(WNK4):c.1818G>A (p.Gly606=) rs149633706
NM_032387.5(WNK4):c.204G>A (p.Gly68=) rs200209645
NM_032387.5(WNK4):c.2264T>A (p.Met755Lys) rs2054629400
NM_032387.5(WNK4):c.2588T>G (p.Leu863Arg) rs545588214
NM_032387.5(WNK4):c.2681C>T (p.Pro894Leu) rs2054650116
NM_032387.5(WNK4):c.2814C>G (p.Ala938=) rs1204473276
NM_032387.5(WNK4):c.2900C>G (p.Pro967Arg) rs775923469
NM_032387.5(WNK4):c.3022+3A>G rs146903073
NM_032387.5(WNK4):c.3032C>G (p.Pro1011Arg) rs61755628
NM_032387.5(WNK4):c.3032C>T (p.Pro1011Leu) rs61755628
NM_032387.5(WNK4):c.316C>A (p.Pro106Thr) rs2054476902
NM_032387.5(WNK4):c.3223C>T (p.Arg1075Cys) rs201421543
NM_032387.5(WNK4):c.3251T>C (p.Val1084Ala) rs148648427
NM_032387.5(WNK4):c.3409G>A (p.Glu1137Lys) rs773000314
NM_032387.5(WNK4):c.3518C>A (p.Pro1173Gln) rs117902541
NM_032387.5(WNK4):c.3595C>A (p.Arg1199Ser) rs200519604
NM_032387.5(WNK4):c.3595C>T (p.Arg1199Cys) rs200519604
NM_032387.5(WNK4):c.383C>G (p.Pro128Arg) rs773898452
NM_032387.5(WNK4):c.560C>T (p.Thr187Met) rs1186879600
NM_032387.5(WNK4):c.716C>G (p.Ser239Trp) rs199775692
NM_032387.5(WNK4):c.79C>G (p.Pro27Ala) rs749459405

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