ClinVar Miner

List of variants reported as likely benign for autosomal dominant pseudohypoaldosteronism type 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_003590.5(CUL3):c.*3531_*3532del rs10612010 0.01684
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_017415.3(KLHL3):c.*1451A>G rs149596381 0.00913
NM_003590.5(CUL3):c.*1872G>C rs140669610 0.00756
NM_017415.3(KLHL3):c.*1896T>G rs75344015 0.00578
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_001001433.3(STX16):c.*651_*653dup rs566135029 0.00368
NM_000901.5(NR3C2):c.1661A>G (p.Asn554Ser) rs5527 0.00327
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_000901.4(NR3C2):c.-275C>T rs61760022 0.00187
NM_003590.5(CUL3):c.2029+14T>C rs201363693 0.00183
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_000901.5(NR3C2):c.*1352G>A rs186795361 0.00086
NM_017415.3(KLHL3):c.*108G>A rs147305829 0.00076
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.883+13G>C rs147823056 0.00061
NM_003590.5(CUL3):c.*896G>C rs141660429 0.00060
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_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_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_017415.3(KLHL3):c.1401C>A (p.Thr467=) rs35420153 0.00016
NM_017415.3(KLHL3):c.*4066C>T rs544519958 0.00015
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_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_000901.5(NR3C2):c.534C>T (p.Arg178=) rs201996429 0.00007
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_017415.3(KLHL3):c.*1651C>T rs577834025 0.00002
NM_017415.3(KLHL3):c.1021+5G>A rs183499982 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_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_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

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