ClinVar Miner

List of variants reported as likely benign for pseudohypoaldosteronism by Illumina Laboratory Services, Illumina

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_001038.6(SCNN1A):c.*633G>T rs62618735 0.01803
NM_003590.5(CUL3):c.*3531_*3532del rs10612010 0.01684
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912 0.01653
NM_003590.5(CUL3):c.*3156A>G rs78383940 0.01631
NM_003590.5(CUL3):c.1581A>T (p.Ala527=) rs41373148 0.01485
NM_001038.5(SCNN1A):c.-155G>A rs72645137 0.01427
NM_003590.5(CUL3):c.2052C>T (p.Ser684=) rs61743301 0.01372
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736 0.01206
NM_017415.3(KLHL3):c.*1451A>G rs149596381 0.00913
NM_003590.5(CUL3):c.*1872G>C rs140669610 0.00756
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702 0.00695
NM_017415.3(KLHL3):c.*1896T>G rs75344015 0.00578
NM_003590.5(CUL3):c.*3463T>C rs76433087 0.00570
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) rs139950628 0.00551
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738 0.00548
NM_003590.5(CUL3):c.*2923A>C rs73077720 0.00490
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_003590.5(CUL3):c.*2945G>C rs41529948 0.00430
NM_001001433.3(STX16):c.*651_*653dup rs566135029 0.00368
NM_001039.4(SCNN1G):c.*1198A>T rs72647547 0.00364
NM_001038.6(SCNN1A):c.*920C>T rs72657532 0.00349
NM_000901.5(NR3C2):c.1661A>G (p.Asn554Ser) rs5527 0.00327
NM_001065.4(TNFRSF1A):c.-96C>T rs115164694 0.00312
NM_000336.3(SCNN1B):c.777-5T>C rs61759915 0.00311
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) rs74012901 0.00290
NM_001038.5(SCNN1A):c.-186C>T rs72645139 0.00258
NM_017415.3(KLHL3):c.*1106G>T rs141393967 0.00223
NM_017415.3(KLHL3):c.-303G>C rs567542768 0.00216
NM_017415.3(KLHL3):c.*2267T>A rs140696146 0.00215
NM_017415.3(KLHL3):c.*3128C>G rs147801381 0.00197
NM_017415.3(KLHL3):c.*4065C>T rs142781557 0.00196
NM_018979.4(WNK1):c.-514C>T rs577916238 0.00191
NM_000901.4(NR3C2):c.-275C>T rs61760022 0.00187
NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln) rs72654356 0.00186
NM_003590.5(CUL3):c.2029+14T>C rs201363693 0.00183
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926 0.00180
NM_003590.5(CUL3):c.*2130A>G rs555995940 0.00154
NM_000901.5(NR3C2):c.*1491G>A rs527827388 0.00153
NM_003590.5(CUL3):c.*2912T>C rs567860520 0.00149
NM_000901.5(NR3C2):c.*1452C>T rs181282602 0.00145
NM_017415.3(KLHL3):c.-256T>A rs182320171 0.00140
NM_003590.5(CUL3):c.*2272T>C rs556914502 0.00132
NM_003590.5(CUL3):c.*1403A>C rs575153722 0.00108
NM_017415.3(KLHL3):c.838C>T (p.Leu280=) rs138650966 0.00095
NM_018979.4(WNK1):c.446C>T (p.Ala149Val) rs34880640 0.00091
NM_000901.5(NR3C2):c.*1352G>A rs186795361 0.00086
NM_017415.3(KLHL3):c.*108G>A rs147305829 0.00076
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) rs148985177 0.00069
NM_003590.5(CUL3):c.*3753T>C rs558805673 0.00068
NM_003590.5(CUL3):c.*294A>G rs532967850 0.00067
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628 0.00063
NM_003590.5(CUL3):c.883+13G>C rs147823056 0.00061
NM_003590.5(CUL3):c.*896G>C rs141660429 0.00060
NM_032387.5(WNK4):c.1523G>A (p.Arg508His) rs55997156 0.00056
NM_001038.6(SCNN1A):c.*850C>T rs62627411 0.00051
NM_017415.3(KLHL3):c.*2360G>A rs533076689 0.00044
NM_003590.5(CUL3):c.264+9C>T rs200018000 0.00039
NM_017415.3(KLHL3):c.-275G>C rs189053795 0.00035
NM_017415.3(KLHL3):c.*4006C>T rs150624383 0.00029
NM_032387.5(WNK4):c.2213G>A (p.Arg738Gln) rs200823152 0.00026
NM_000336.2(SCNN1B):c.-150C>G rs530631658 0.00022
NM_001065.4(TNFRSF1A):c.-233C>T rs45537340 0.00022
NM_003590.5(CUL3):c.*89A>T rs192166927 0.00022
NM_000901.5(NR3C2):c.1380T>A (p.Phe460Leu) rs149589666 0.00019
NM_001001433.3(STX16):c.*1725A>T rs545095749 0.00019
NM_001038.5(SCNN1A):c.-156C>T rs72645138 0.00019
NM_001038.6(SCNN1A):c.*509T>G rs150966071 0.00019
NM_017415.3(KLHL3):c.*2248C>T rs3813317 0.00019
NM_017415.3(KLHL3):c.*224G>T rs536807069 0.00019
NM_017415.3(KLHL3):c.904-5C>T rs375172469 0.00019
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=) rs2303155 0.00016
NM_017415.3(KLHL3):c.1401C>A (p.Thr467=) rs35420153 0.00016
NM_017415.3(KLHL3):c.*4066C>T rs544519958 0.00015
NM_001038.6(SCNN1A):c.*4G>A rs557017986 0.00014
NM_017415.3(KLHL3):c.*2485T>G rs573842978 0.00014
NM_017415.3(KLHL3):c.1321+10C>T rs145091610 0.00014
NM_003590.5(CUL3):c.693A>C (p.Ser231=) rs181190157 0.00011
NM_017415.3(KLHL3):c.*299G>A rs539132895 0.00011
NM_018979.4(WNK1):c.210G>A (p.Ala70=) rs145076179 0.00011
NM_000336.3(SCNN1B):c.*20G>A rs755277136 0.00010
NM_017415.3(KLHL3):c.*2687C>T rs186283051 0.00010
NM_000901.5(NR3C2):c.1757+6T>C rs184268528 0.00009
NM_000901.5(NR3C2):c.2087C>T (p.Pro696Leu) rs368322580 0.00009
NM_018979.4(WNK1):c.*24A>G rs367692602 0.00009
NM_018979.4(WNK1):c.1434C>T (p.Phe478=) rs61736906 0.00009
NM_018979.4(WNK1):c.5189C>T (p.Thr1730Ile) rs375562377 0.00009
NM_032387.5(WNK4):c.2297A>G (p.Glu766Gly) rs778394259 0.00009
NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe) rs745715995 0.00008
NM_017415.3(KLHL3):c.1220-12C>T rs377696339 0.00008
NM_032387.5(WNK4):c.2030G>A (p.Arg677Gln) rs772583212 0.00008
NM_000901.5(NR3C2):c.534C>T (p.Arg178=) rs201996429 0.00007
NM_001038.6(SCNN1A):c.-69C>T rs545108113 0.00006
NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu) rs201995891 0.00006
NM_032387.5(WNK4):c.2005C>T (p.Arg669Trp) rs769815091 0.00006
NM_032387.5(WNK4):c.2481C>T (p.Pro827=) rs200744992 0.00005
NM_000901.5(NR3C2):c.2871C>T (p.Pro957=) rs535338611 0.00004
NM_000901.5(NR3C2):c.405G>C (p.Gln135His) rs138893620 0.00004
NM_003590.5(CUL3):c.*2863T>G rs536790634 0.00004
NM_018979.4(WNK1):c.108G>C (p.Gly36=) rs375485682 0.00004
NM_032387.5(WNK4):c.1953C>T (p.Ser651=) rs766220456 0.00004
NM_032387.5(WNK4):c.924C>T (p.Val308=) rs779031905 0.00004
NM_001065.4(TNFRSF1A):c.-74G>A rs200084924 0.00003
NM_018979.4(WNK1):c.2624C>G (p.Thr875Arg) rs529032048 0.00003
NM_018979.4(WNK1):c.296C>T (p.Pro99Leu) rs560595238 0.00003
NM_018979.4(WNK1):c.7119C>T (p.Asn2373=) rs201636547 0.00003
NM_032387.5(WNK4):c.2837C>G (p.Pro946Arg) rs200187290 0.00003
NM_003590.5(CUL3):c.1647A>G (p.Thr549=) rs746272319 0.00002
NM_017415.3(KLHL3):c.*1651C>T rs577834025 0.00002
NM_017415.3(KLHL3):c.1021+5G>A rs183499982 0.00002
NM_017415.3(KLHL3):c.966C>T (p.Phe322=) rs750511635 0.00002
NM_018979.4(WNK1):c.*1060C>G rs533399537 0.00002
NM_018979.4(WNK1):c.128C>G (p.Ala43Gly) rs775564750 0.00002
NM_018979.4(WNK1):c.209C>G (p.Ala70Gly) rs368280492 0.00002
NM_032387.5(WNK4):c.246C>A (p.Asp82Glu) rs373427674 0.00002
NC_000004.12:g.148078763G>A rs146849424 0.00001
NM_000901.5(NR3C2):c.*7G>A rs772531453 0.00001
NM_000901.5(NR3C2):c.739A>T (p.Arg247Trp) rs149902988 0.00001
NM_003590.5(CUL3):c.600C>G (p.Val200=) rs561338665 0.00001
NM_017415.3(KLHL3):c.*2805A>G rs141261117 0.00001
NM_017415.3(KLHL3):c.1518C>T (p.Ser506=) rs529937913 0.00001
NM_018979.4(WNK1):c.2710A>G (p.Thr904Ala) rs752492830 0.00001
NM_018979.4(WNK1):c.2926C>T (p.Leu976=) rs761135188 0.00001
NM_018979.4(WNK1):c.4384G>C (p.Gly1462Arg) rs368621387 0.00001
NM_018979.4(WNK1):c.5258A>G (p.Lys1753Arg) rs752078094 0.00001
NM_000901.4(NR3C2):c.-281_-276CCCTGC[2] rs540712695
NM_000901.5(NR3C2):c.*1541_*1544dup rs140789678
NM_000901.5(NR3C2):c.*1667TTTG[1] rs146592484
NM_000901.5(NR3C2):c.*1726_*1729dup rs199601327
NM_000901.5(NR3C2):c.*1836ATTA[1] rs570043057
NM_000901.5(NR3C2):c.1055C>A (p.Ser352Tyr) rs746247810
NM_000901.5(NR3C2):c.2126C>T (p.Thr709Met) rs139938639
NM_001038.6(SCNN1A):c.1717G>A (p.Val573Ile) rs59142484
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) rs55797039
NM_001039.4(SCNN1G):c.*597dup rs566227302
NM_003590.5(CUL3):c.*1245_*1249del rs144788294
NM_003590.5(CUL3):c.*1483C>G rs79297951
NM_003590.5(CUL3):c.*1934_*1937del rs533374759
NM_003590.5(CUL3):c.*2117dup rs572505388
NM_003590.5(CUL3):c.*265_*269del rs527449132
NM_003590.5(CUL3):c.1708-14del rs777017393
NM_018979.4(WNK1):c.*1722ATTA[1] rs561811313
NM_018979.4(WNK1):c.*1932AG[1] rs529382173
NM_018979.4(WNK1):c.*2615_*2618dup rs376351532
NM_018979.4(WNK1):c.*487_*490del rs144238789
NM_018979.4(WNK1):c.*654_*655del rs560549119
NM_018979.4(WNK1):c.3845-14G>A rs368270119
NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del) rs72650732
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.3032C>T (p.Pro1011Leu) rs61755628
NM_032387.5(WNK4):c.716C>G (p.Ser239Trp) rs199775692
NM_032387.5(WNK4):c.717G>T (p.Ser239=) rs765644398

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