ClinVar Miner

List of variants reported as benign for Pseudohypoaldosteronism type 2E by Illumina Laboratory Services, Illumina

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Total variants: 43
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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.*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.*2912T>C rs567860520 0.00149
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.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.543C>T (p.Gly181=) rs17480168 0.00011
NM_003590.5(CUL3):c.693A>C (p.Ser231=) rs181190157 0.00011
NM_003590.5(CUL3):c.*2863T>G rs536790634 0.00004
NM_003590.5(CUL3):c.1401G>A (p.Thr467=) rs760705728 0.00004
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.*940C>T rs3768897
NM_003590.5(CUL3):c.-143G>A rs556768798
NM_003590.5(CUL3):c.-289G>A rs538985622

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