ClinVar Miner

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

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ClinVar version:
Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_003590.5(CUL3):c.*3789C>T rs4234054 0.99420
NM_003590.5(CUL3):c.*3367T>C rs4674908 0.48773
NM_003590.5(CUL3):c.*3991A>G rs12470077 0.29898
NM_003590.5(CUL3):c.*3148A>G rs17479770 0.24341
NM_003590.5(CUL3):c.1485+13G>A rs3754629 0.18293
NM_003590.5(CUL3):c.*2192T>C rs3768898 0.18207
NM_003590.5(CUL3):c.1992A>G (p.Gln664=) rs2070127 0.18190
NM_003590.5(CUL3):c.*2431G>T rs10498160 0.18184
NM_003590.5(CUL3):c.*2073A>G rs10498161 0.18179
NM_003590.5(CUL3):c.*2653G>A rs3768899 0.18168
NM_003590.5(CUL3):c.*3672T>C rs2396092 0.18136
NM_003590.5(CUL3):c.1699G>A (p.Val567Ile) rs3738952 0.08330
NM_003590.5(CUL3):c.*1774G>T rs13016316 0.08321
NM_003590.5(CUL3):c.*2193G>A rs73993899 0.05780
NM_003590.5(CUL3):c.-220C>T rs193226396 0.03037
NM_003590.5(CUL3):c.*3156A>G rs78383940 0.01631
NM_003590.5(CUL3):c.1581A>T (p.Ala527=) rs41373148 0.01485
NM_003590.5(CUL3):c.2052C>T (p.Ser684=) rs61743301 0.01372
NM_003590.5(CUL3):c.*1872G>C rs140669610 0.00756
NM_003590.5(CUL3):c.-201C>G rs188890085 0.00738
NM_003590.5(CUL3):c.*3463T>C rs76433087 0.00570
NM_003590.5(CUL3):c.*2923A>C rs73077720 0.00490
NM_003590.5(CUL3):c.*2945G>C rs41529948 0.00430
NM_003590.5(CUL3):c.*3665T>A rs374191606 0.00230
NM_003590.5(CUL3):c.2029+14T>C rs201363693 0.00183
NM_003590.5(CUL3):c.*2130A>G rs555995940 0.00154
NM_003590.5(CUL3):c.*2912T>C rs567860520 0.00149
NM_003590.5(CUL3):c.*2272T>C rs556914502 0.00132
NM_003590.5(CUL3):c.*1403A>C rs575153722 0.00108
NM_003590.5(CUL3):c.*124C>T rs186807043 0.00098
NM_003590.5(CUL3):c.21C>T (p.Gly7=) rs201374931 0.00079
NM_003590.5(CUL3):c.*3753T>C rs558805673 0.00068
NM_003590.5(CUL3):c.*294A>G rs532967850 0.00067
NM_003590.5(CUL3):c.1708-14T>A rs200916037 0.00061
NM_003590.5(CUL3):c.883+13G>C rs147823056 0.00061
NM_003590.5(CUL3):c.*896G>C rs141660429 0.00060
NM_003590.5(CUL3):c.264+9C>T rs200018000 0.00039
NM_003590.5(CUL3):c.*3973T>A rs187193598 0.00036
NM_003590.5(CUL3):c.*3026G>A rs748865811 0.00034
NM_003590.5(CUL3):c.-270G>A rs913597782 0.00029
NM_003590.5(CUL3):c.*89A>T rs192166927 0.00022
NM_003590.5(CUL3):c.*1506G>A rs886055691 0.00019
NM_003590.5(CUL3):c.*2341G>C rs938971844 0.00014
NM_003590.5(CUL3):c.*3596A>G rs764772276 0.00014
NM_003590.5(CUL3):c.*2766G>C rs747359530 0.00013
NM_003590.5(CUL3):c.*4088T>C rs556849083 0.00013
NM_003590.5(CUL3):c.543C>T (p.Gly181=) rs17480168 0.00011
NM_003590.5(CUL3):c.693A>C (p.Ser231=) rs181190157 0.00011
NM_003590.5(CUL3):c.*3810C>T rs940993118 0.00009
NM_003590.5(CUL3):c.*664T>G rs778642011 0.00009
NM_003590.5(CUL3):c.*915A>G rs760530227 0.00007
NM_003590.5(CUL3):c.*1883T>C rs190478338 0.00006
NM_003590.5(CUL3):c.*2195A>G rs886055688 0.00006
NM_003590.5(CUL3):c.*2756G>A rs886055684 0.00006
NM_003590.5(CUL3):c.-169C>T rs1355759034 0.00006
NM_003590.5(CUL3):c.*2008G>T rs185186023 0.00004
NM_003590.5(CUL3):c.*2469G>C rs886055686 0.00004
NM_003590.5(CUL3):c.*2863T>G rs536790634 0.00004
NM_003590.5(CUL3):c.*3392A>G rs886055680 0.00004
NM_003590.5(CUL3):c.*782G>T rs926333413 0.00004
NM_003590.5(CUL3):c.1401G>A (p.Thr467=) rs760705728 0.00004
NM_003590.5(CUL3):c.*2553A>G rs1440895219 0.00003
NM_003590.5(CUL3):c.*2854A>G rs772430576 0.00003
NM_003590.5(CUL3):c.*2868T>C rs886055683 0.00003
NM_003590.5(CUL3):c.*2689T>C rs1248975644 0.00002
NM_003590.5(CUL3):c.*3134A>T rs552216335 0.00002
NM_003590.5(CUL3):c.-51C>T rs1338522925 0.00002
NM_003590.5(CUL3):c.1647A>G (p.Thr549=) rs746272319 0.00002
NM_003590.5(CUL3):c.*2093A>G rs886055689 0.00001
NM_003590.5(CUL3):c.*3766G>A rs886055679 0.00001
NM_003590.5(CUL3):c.*3958C>T rs1691077506 0.00001
NM_003590.5(CUL3):c.*496A>T rs1691214384 0.00001
NM_003590.5(CUL3):c.*540G>A rs1407928300 0.00001
NM_003590.5(CUL3):c.*790T>G rs980398909 0.00001
NM_003590.5(CUL3):c.*84C>T rs968196250 0.00001
NM_003590.5(CUL3):c.*905A>G rs764172604 0.00001
NM_003590.5(CUL3):c.1036T>C (p.Leu346=) rs758182990 0.00001
NM_003590.5(CUL3):c.1293T>C (p.Tyr431=) rs767137215 0.00001
NM_003590.5(CUL3):c.1902C>T (p.Leu634=) rs745765743 0.00001
NM_003590.5(CUL3):c.600C>G (p.Val200=) rs561338665 0.00001
NM_003590.5(CUL3):c.*1483C>G rs79297951
NM_003590.5(CUL3):c.*1498C>G rs886055692
NM_003590.5(CUL3):c.*1518A>T rs886055690
NM_003590.5(CUL3):c.*1943A>T rs890153682
NM_003590.5(CUL3):c.*207G>A rs886055694
NM_003590.5(CUL3):c.*2424C>T rs886055687
NM_003590.5(CUL3):c.*2584T>C rs886055685
NM_003590.5(CUL3):c.*2851A>C rs1691124781
NM_003590.5(CUL3):c.*3922A>G rs1691078689
NM_003590.5(CUL3):c.*499T>C rs1691214301
NM_003590.5(CUL3):c.*527A>G rs1171555841
NM_003590.5(CUL3):c.*545A>G rs886055693
NM_003590.5(CUL3):c.*736A>G rs531395316
NM_003590.5(CUL3):c.*784G>A rs1224616813
NM_003590.5(CUL3):c.*940C>T rs3768897
NM_003590.5(CUL3):c.-118C>G rs1695550733
NM_003590.5(CUL3):c.-143G>A rs556768798
NM_003590.5(CUL3):c.-143G>C rs556768798
NM_003590.5(CUL3):c.-173G>C rs183605797
NM_003590.5(CUL3):c.-185G>C rs1232933028
NM_003590.5(CUL3):c.-246C>T rs928887003
NM_003590.5(CUL3):c.-289G>A rs538985622
NM_003590.5(CUL3):c.-291A>T rs1695560106
NM_003590.5(CUL3):c.-317C>A rs950809352
NM_003590.5(CUL3):c.-7G>A rs967941732
NM_003590.5(CUL3):c.1028A>G (p.Gln343Arg) rs1692622022
NM_003590.5(CUL3):c.1462A>C (p.Arg488=) rs1692449966
NM_003590.5(CUL3):c.304C>A (p.Leu102Ile) rs886055697
NM_003590.5(CUL3):c.310A>T (p.Thr104Ser) rs886055696
NM_003590.5(CUL3):c.884-5T>C rs1692626427

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