ClinVar Miner

List of variants reported as uncertain significance for pseudohypoaldosteronism by Illumina Laboratory Services, Illumina

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 498
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HGVS dbSNP gnomAD frequency
NM_017415.3(KLHL3):c.*3204A>T rs4835684 0.35371
NM_001038.6(SCNN1A):c.*296C>T rs55981728 0.00844
NM_001038.6(SCNN1A):c.*914A>G rs62619209 0.00770
NM_003590.5(CUL3):c.-201C>G rs188890085 0.00738
NM_003590.5(CUL3):c.*3665T>A rs374191606 0.00230
NM_017415.3(KLHL3):c.-303G>C rs567542768 0.00216
NM_017415.3(KLHL3):c.-286C>G rs140523800 0.00212
NM_000901.5(NR3C2):c.*804G>T rs72648707 0.00209
NM_001039.4(SCNN1G):c.*328G>A rs56153525 0.00192
NM_017415.3(KLHL3):c.*1657G>A rs375193765 0.00178
NM_003590.5(CUL3):c.*2130A>G rs555995940 0.00154
NM_000901.5(NR3C2):c.*1493del rs533687617 0.00153
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=) rs61759916 0.00151
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) rs139310448 0.00132
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=) rs61759917 0.00123
NM_001038.6(SCNN1A):c.*113C>T rs62620999 0.00121
NM_018979.4(WNK1):c.-253A>G rs549380671 0.00110
NM_003590.5(CUL3):c.*2272T>C rs556914502 0.00109
NM_001038.6(SCNN1A):c.-54-14C>T rs61758858 0.00091
NM_001038.6(SCNN1A):c.1935C>T (p.Ala645=) rs370406973 0.00082
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) rs72647541 0.00082
NM_001038.6(SCNN1A):c.*467C>A rs140681881 0.00081
NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu) rs148749888 0.00078
NM_001039.4(SCNN1G):c.1452C>A (p.Leu484=) rs72647527 0.00075
NM_018979.4(WNK1):c.*164G>A rs767710474 0.00071
NM_003590.5(CUL3):c.*3753T>C rs558805673 0.00068
NM_003590.5(CUL3):c.*294A>G rs532967850 0.00067
NM_001039.4(SCNN1G):c.*230C>T rs72647546 0.00061
NM_000901.5(NR3C2):c.*379G>A rs530957356 0.00058
NM_017415.3(KLHL3):c.*790G>A rs572765305 0.00053
NM_000336.3(SCNN1B):c.1270+14C>T rs141909058 0.00052
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806 0.00051
NM_003590.5(CUL3):c.*3096G>C rs886055681 0.00049
NM_001039.4(SCNN1G):c.*1370G>A rs72647550 0.00048
NM_018979.4(WNK1):c.-368G>T rs886049859 0.00048
NM_017415.3(KLHL3):c.*4356G>T rs757402685 0.00047
NM_000336.3(SCNN1B):c.1346+8C>T rs200714599 0.00046
NM_000901.4(NR3C2):c.-348C>G rs749300160 0.00044
NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn) rs72646501 0.00044
NM_017415.3(KLHL3):c.*2360G>A rs533076689 0.00044
NM_000901.5(NR3C2):c.-243G>T rs1750392355 0.00043
NM_000336.3(SCNN1B):c.*241G>A rs529644900 0.00040
NM_001039.4(SCNN1G):c.1476A>G (p.Val492=) rs146420892 0.00040
NM_000901.5(NR3C2):c.-228T>C rs553066220 0.00039
NM_018979.4(WNK1):c.*1056C>A rs765836409 0.00039
NM_000336.3(SCNN1B):c.*278C>T rs549628659 0.00038
NM_001038.6(SCNN1A):c.126G>A (p.Thr42=) rs138995556 0.00036
NM_001038.6(SCNN1A):c.840C>T (p.Phe280=) rs139335335 0.00036
NM_001039.4(SCNN1G):c.*979T>C rs540231207 0.00036
NM_001038.6(SCNN1A):c.876-13C>T rs201235216 0.00033
NM_018979.4(WNK1):c.*2562G>A rs773462361 0.00033
NM_003590.5(CUL3):c.*3026G>A rs748865811 0.00032
NM_017415.3(KLHL3):c.756G>A (p.Thr252=) rs143617205 0.00032
NM_017415.3(KLHL3):c.*2088C>T rs182886272 0.00031
NM_017415.3(KLHL3):c.*2763C>T rs550345984 0.00031
NM_003590.5(CUL3):c.-270G>A rs913597782 0.00030
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile) rs149484264 0.00029
NM_017415.3(KLHL3):c.-337A>G rs886059961 0.00029
NM_003590.5(CUL3):c.-317C>A rs950809352 0.00026
NM_000901.5(NR3C2):c.*1206G>C rs557553789 0.00025
NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=) rs762486495 0.00024
NM_018979.4(WNK1):c.*143C>A rs960409528 0.00024
NM_032387.5(WNK4):c.3553C>T (p.Arg1185Cys) rs137853095 0.00024
NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=) rs541449814 0.00023
NM_001038.6(SCNN1A):c.*727A>G rs549856051 0.00023
NM_017415.3(KLHL3):c.*1916G>A rs534983852 0.00023
NM_017415.3(KLHL3):c.-344G>T rs886059962 0.00023
NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=) rs3764873 0.00022
NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala) rs72657550 0.00022
NM_003590.5(CUL3):c.*89A>T rs192166927 0.00022
NM_001038.6(SCNN1A):c.*352A>G rs72657536 0.00021
NM_000901.5(NR3C2):c.*2289T>G rs752375846 0.00020
NM_001039.4(SCNN1G):c.*491G>A rs146413363 0.00020
NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=) rs2303156 0.00019
NM_001038.6(SCNN1A):c.-59G>C rs72645135 0.00019
NM_001038.6(SCNN1A):c.1497+6G>C rs144275086 0.00019
NM_001038.6(SCNN1A):c.1520C>T (p.Ser507Leu) rs148959452 0.00019
NM_001038.6(SCNN1A):c.1554-6C>T rs376456435 0.00019
NM_003590.5(CUL3):c.*1506G>A rs886055691 0.00019
NM_017415.3(KLHL3):c.*141C>T rs189064290 0.00019
NM_017415.3(KLHL3):c.*224G>T rs536807069 0.00019
NM_017415.3(KLHL3):c.*4257A>G rs768556632 0.00019
NM_017415.3(KLHL3):c.-402C>T rs774532097 0.00019
NM_018979.4(WNK1):c.*1904dup rs1555165765 0.00019
NM_032387.5(WNK4):c.*148C>T rs556182339 0.00019
NM_000336.3(SCNN1B):c.*94G>A rs72654359 0.00018
NM_003590.5(CUL3):c.*3785dup rs886055678 0.00018
NM_017415.3(KLHL3):c.*4066C>T rs544519958 0.00018
NM_017415.3(KLHL3):c.*4166T>C rs946477406 0.00018
NM_000336.3(SCNN1B):c.1694G>A (p.Arg565Gln) rs13306627 0.00017
NM_018979.4(WNK1):c.*1744C>T rs886048820 0.00017
NM_000336.3(SCNN1B):c.1790G>A (p.Arg597His) rs140945152 0.00016
NM_000901.5(NR3C2):c.*1774A>G rs377659495 0.00016
NM_017415.3(KLHL3):c.*1055A>G rs886059950 0.00016
NM_017415.3(KLHL3):c.*2337A>G rs181120455 0.00016
NM_001039.4(SCNN1G):c.477G>A (p.Pro159=) rs145602271 0.00015
NM_000336.3(SCNN1B):c.1757C>T (p.Thr586Ile) rs147926991 0.00014
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.*4088T>C rs556849083 0.00013
NM_000901.5(NR3C2):c.*356A>G rs548954265 0.00012
NM_001038.6(SCNN1A):c.*542G>A rs920293100 0.00012
NM_017415.3(KLHL3):c.*4438C>T rs1046477612 0.00012
NM_000336.3(SCNN1B):c.1376T>C (p.Met459Thr) rs201369319 0.00011
NM_003590.5(CUL3):c.*2766G>C rs747359530 0.00011
NM_017415.3(KLHL3):c.*2941G>A rs753164963 0.00011
NM_017415.3(KLHL3):c.*299G>A rs539132895 0.00011
NM_017415.3(KLHL3):c.*3271A>G rs886059940 0.00011
NM_018979.4(WNK1):c.-234T>C rs368645018 0.00011
NM_000901.5(NR3C2):c.*1406A>T rs61763137 0.00010
NM_000901.5(NR3C2):c.*6C>T rs373627783 0.00010
NM_001038.6(SCNN1A):c.1686G>A (p.Ser562=) rs199526819 0.00010
NM_000336.3(SCNN1B):c.1789C>T (p.Arg597Cys) rs373718332 0.00009
NM_000901.5(NR3C2):c.*1475T>G rs886059123 0.00009
NM_000901.5(NR3C2):c.*1493C>T rs886059122 0.00009
NM_001039.4(SCNN1G):c.*1147A>G rs80081880 0.00009
NM_003590.5(CUL3):c.*2854A>G rs772430576 0.00009
NM_003590.5(CUL3):c.*3810C>T rs940993118 0.00009
NM_003590.5(CUL3):c.*664T>G rs778642011 0.00009
NM_017415.3(KLHL3):c.*1583C>T rs554048189 0.00009
NM_018979.4(WNK1):c.*1307G>A rs547941922 0.00009
NM_018979.4(WNK1):c.*2244T>G rs565358026 0.00009
NM_000336.3(SCNN1B):c.1229G>A (p.Arg410His) rs200966246 0.00008
NM_000336.3(SCNN1B):c.586-15T>C rs371098444 0.00008
NM_001038.6(SCNN1A):c.746G>A (p.Arg249Lys) rs142409152 0.00008
NM_017415.3(KLHL3):c.*3051G>A rs373499483 0.00008
NM_000336.3(SCNN1B):c.1514G>A (p.Arg505His) rs138784278 0.00007
NM_000336.3(SCNN1B):c.467G>A (p.Arg156Gln) rs765336896 0.00007
NM_000336.3(SCNN1B):c.918C>T (p.Tyr306=) rs374264520 0.00007
NM_001038.6(SCNN1A):c.1394C>T (p.Ser465Phe) rs369382063 0.00007
NM_003590.5(CUL3):c.*2195A>G rs886055688 0.00007
NM_003590.5(CUL3):c.*2756G>A rs886055684 0.00007
NM_003590.5(CUL3):c.*915A>G rs760530227 0.00007
NM_017415.3(KLHL3):c.*2023G>C rs886059948 0.00007
NM_017415.3(KLHL3):c.*2886A>G rs1027988431 0.00007
NM_000336.3(SCNN1B):c.1005C>T (p.Tyr335=) rs13306633 0.00006
NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe) rs199810483 0.00006
NM_000336.3(SCNN1B):c.6C>T (p.His2=) rs564570566 0.00006
NM_000901.5(NR3C2):c.*1307C>G rs886059125 0.00006
NM_000901.5(NR3C2):c.*1365G>A rs550508714 0.00006
NM_000901.5(NR3C2):c.1272A>G (p.Ser424=) rs368453653 0.00006
NM_000901.5(NR3C2):c.2334C>T (p.Ile778=) rs747663972 0.00006
NM_001038.6(SCNN1A):c.*114G>A rs886049756 0.00006
NM_001038.6(SCNN1A):c.*468C>T rs1336335704 0.00006
NM_001039.4(SCNN1G):c.*591G>T rs538477185 0.00006
NM_001039.4(SCNN1G):c.*909C>T rs1003477910 0.00006
NM_001039.4(SCNN1G):c.1861G>A (p.Gly621Ser) rs139012605 0.00006
NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln) rs546893551 0.00006
NM_003590.5(CUL3):c.*1883T>C rs190478338 0.00006
NM_003590.5(CUL3):c.-169C>T rs1355759034 0.00006
NM_017415.3(KLHL3):c.*4185G>A rs914974414 0.00006
NM_018979.4(WNK1):c.*1304C>T rs766319091 0.00006
NM_018979.4(WNK1):c.*441C>G rs753439066 0.00006
NM_018979.4(WNK1):c.*613T>C rs1047791734 0.00006
NM_018979.4(WNK1):c.-638C>T rs982467452 0.00006
NM_018979.4(WNK1):c.2652G>A (p.Ala884=) rs142528714 0.00006
NM_032387.5(WNK4):c.2625A>G (p.Pro875=) rs749781217 0.00006
NM_000336.3(SCNN1B):c.1713C>T (p.Tyr571=) rs758251652 0.00005
NM_000901.5(NR3C2):c.*1019C>G rs987993546 0.00005
NM_000901.5(NR3C2):c.*325G>A rs201950852 0.00005
NM_001038.6(SCNN1A):c.*590C>G rs886049753 0.00005
NM_001038.6(SCNN1A):c.1299C>T (p.Tyr433=) rs375712066 0.00005
NM_001039.4(SCNN1G):c.*99C>T rs1418745552 0.00005
NM_001039.4(SCNN1G):c.132C>T (p.Ile44=) rs774767092 0.00005
NM_017415.3(KLHL3):c.*4080C>T rs998471655 0.00005
NM_017415.3(KLHL3):c.*953A>G rs925746719 0.00005
NM_018979.4(WNK1):c.*1169G>A rs549160638 0.00005
NM_000336.3(SCNN1B):c.246C>T (p.Ser82=) rs757137077 0.00004
NM_000901.5(NR3C2):c.*1088C>T rs750409888 0.00004
NM_000901.5(NR3C2):c.*1110C>G rs765227272 0.00004
NM_000901.5(NR3C2):c.*2354T>C rs886059118 0.00004
NM_000901.5(NR3C2):c.*2368C>A rs886059117 0.00004
NM_000901.5(NR3C2):c.*592G>A rs751325270 0.00004
NM_001038.6(SCNN1A):c.1766G>A (p.Arg589Gln) rs775290860 0.00004
NM_001038.6(SCNN1A):c.1805C>T (p.Ala602Val) rs751903373 0.00004
NM_001039.4(SCNN1G):c.399G>A (p.Glu133=) rs200985912 0.00004
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.*782G>T rs926333413 0.00004
NM_017415.3(KLHL3):c.*1128A>C rs962095157 0.00004
NM_017415.3(KLHL3):c.*2156A>G rs886059947 0.00004
NM_017415.3(KLHL3):c.*2692C>T rs919793461 0.00004
NM_018979.4(WNK1):c.*642G>A rs886048810 0.00004
NM_018979.4(WNK1):c.198T>C (p.Arg66=) rs777517901 0.00004
NM_018979.4(WNK1):c.473G>C (p.Ser158Thr) rs920732487 0.00004
NM_000336.3(SCNN1B):c.1404+7C>T rs1485041245 0.00003
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His) rs776613953 0.00003
NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln) rs201279350 0.00003
NM_000901.5(NR3C2):c.*1327C>A rs879593672 0.00003
NM_000901.5(NR3C2):c.*1758A>G rs886059121 0.00003
NM_000901.5(NR3C2):c.-249C>T rs886059133 0.00003
NM_000901.5(NR3C2):c.100A>G (p.Thr34Ala) rs760623537 0.00003
NM_001038.6(SCNN1A):c.*69A>G rs1230500939 0.00003
NM_001038.6(SCNN1A):c.1177G>A (p.Asp393Asn) rs886049758 0.00003
NM_003590.5(CUL3):c.*2553A>G rs1440895219 0.00003
NM_003590.5(CUL3):c.*3392A>G rs886055680 0.00003
NM_003590.5(CUL3):c.*3922A>G rs1691078689 0.00003
NM_003590.5(CUL3):c.*545A>G rs886055693 0.00003
NM_017415.3(KLHL3):c.*1651C>T rs577834025 0.00003
NM_017415.3(KLHL3):c.*2991T>C rs767931459 0.00003
NM_017415.3(KLHL3):c.*39G>A rs762735618 0.00003
NM_017415.3(KLHL3):c.*4364A>G rs886059935 0.00003
NM_017415.3(KLHL3):c.1421C>T (p.Ala474Val) rs200144703 0.00003
NM_018979.4(WNK1):c.*1971G>C rs536971299 0.00003
NM_000336.3(SCNN1B):c.*187G>A rs886051816 0.00002
NM_000901.5(NR3C2):c.1090A>T (p.Thr364Ser) rs558132922 0.00002
NM_000901.5(NR3C2):c.334G>C (p.Val112Leu) rs1330903694 0.00002
NM_001038.6(SCNN1A):c.1241A>G (p.Gln414Arg) rs886049757 0.00002
NM_001038.6(SCNN1A):c.1801G>C (p.Gly601Arg) rs755287192 0.00002
NM_001038.6(SCNN1A):c.319G>A (p.Gly107Arg) rs144763378 0.00002
NM_001039.4(SCNN1G):c.1841C>T (p.Ala614Val) rs1474666302 0.00002
NM_003590.5(CUL3):c.*2689T>C rs1248975644 0.00002
NM_003590.5(CUL3):c.*2868T>C rs886055683 0.00002
NM_003590.5(CUL3):c.*3134A>T rs552216335 0.00002
NM_003590.5(CUL3):c.-51C>T rs1338522925 0.00002
NM_017415.3(KLHL3):c.*174C>G rs1378746793 0.00002
NM_017415.3(KLHL3):c.*1919C>A rs1161753727 0.00002
NM_017415.3(KLHL3):c.*2647C>T rs938695444 0.00002
NM_017415.3(KLHL3):c.*501T>C rs886059955 0.00002
NM_018979.4(WNK1):c.-291G>A rs886049862 0.00002
NM_018979.4(WNK1):c.126G>A (p.Ala42=) rs935728437 0.00002
NM_018979.4(WNK1):c.295C>T (p.Pro99Ser) rs563691424 0.00002
NM_018979.4(WNK1):c.3527C>T (p.Ser1176Leu) rs754769050 0.00002
NM_018979.4(WNK1):c.4043C>T (p.Thr1348Ile) rs746601991 0.00002
NM_018979.4(WNK1):c.5555C>G (p.Ala1852Gly) rs886048785 0.00002
NM_018979.4(WNK1):c.5943T>G (p.Phe1981Leu) rs72650765 0.00002
NM_032387.5(WNK4):c.1073T>A (p.Val358Glu) rs1482267302 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_000336.3(SCNN1B):c.1199A>G (p.Asn400Ser) rs768729700 0.00001
NM_000336.3(SCNN1B):c.1419C>T (p.His473=) rs193211556 0.00001
NM_000336.3(SCNN1B):c.159C>T (p.Phe53=) rs749106839 0.00001
NM_000336.3(SCNN1B):c.561C>T (p.His187=) rs773448523 0.00001
NM_000336.3(SCNN1B):c.753C>T (p.Phe251=) rs748167291 0.00001
NM_000901.5(NR3C2):c.*1471A>G rs1423652712 0.00001
NM_000901.5(NR3C2):c.*2384T>C rs1171005656 0.00001
NM_000901.5(NR3C2):c.*416T>C rs886059127 0.00001
NM_000901.5(NR3C2):c.*519G>A rs766404000 0.00001
NM_000901.5(NR3C2):c.*586G>A rs552553946 0.00001
NM_000901.5(NR3C2):c.-111C>T rs886059132 0.00001
NM_000901.5(NR3C2):c.-238C>T rs1228027123 0.00001
NM_000901.5(NR3C2):c.1513G>A (p.Glu505Lys) rs774066754 0.00001
NM_000901.5(NR3C2):c.218G>A (p.Cys73Tyr) rs776685641 0.00001
NM_000901.5(NR3C2):c.2745G>A (p.Gly915=) rs1732169191 0.00001
NM_000901.5(NR3C2):c.2809G>A (p.Asp937Asn) rs886059129 0.00001
NM_000901.5(NR3C2):c.747C>T (p.His249=) rs886059130 0.00001
NM_001038.6(SCNN1A):c.*180T>C rs1045767188 0.00001
NM_001038.6(SCNN1A):c.*415C>T rs886049755 0.00001
NM_001038.6(SCNN1A):c.*666T>C rs891843136 0.00001
NM_001038.6(SCNN1A):c.*736T>G rs886049752 0.00001
NM_001038.6(SCNN1A):c.1048C>G (p.Arg350Gly) rs181065138 0.00001
NM_001038.6(SCNN1A):c.417-15C>T rs1366336758 0.00001
NM_001038.6(SCNN1A):c.648G>A (p.Gln216=) rs780536807 0.00001
NM_001038.6(SCNN1A):c.777C>G (p.Ile259Met) rs866913999 0.00001
NM_001038.6(SCNN1A):c.826G>T (p.Gly276Cys) rs759933475 0.00001
NM_001038.6(SCNN1A):c.944A>G (p.Asn315Ser) rs886049759 0.00001
NM_001039.4(SCNN1G):c.*393T>C rs943847843 0.00001
NM_001039.4(SCNN1G):c.-23G>A rs762522517 0.00001
NM_001039.4(SCNN1G):c.1083G>A (p.Glu361=) rs752432261 0.00001
NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg) rs202142122 0.00001
NM_001039.4(SCNN1G):c.1563C>T (p.Ala521=) rs767735046 0.00001
NM_001039.4(SCNN1G):c.446G>C (p.Gly149Ala) rs754747376 0.00001
NM_001039.4(SCNN1G):c.48C>T (p.Pro16=) rs1203780950 0.00001
NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp) rs763601481 0.00001
NM_001039.4(SCNN1G):c.940G>A (p.Glu314Lys) rs147199706 0.00001
NM_003590.5(CUL3):c.*2093A>G rs886055689 0.00001
NM_003590.5(CUL3):c.*2424C>T rs886055687 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.*736A>G rs531395316 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.2102A>T (p.His701Leu) rs886055695 0.00001
NM_017415.3(KLHL3):c.*1034C>T rs886059951 0.00001
NM_017415.3(KLHL3):c.*1124T>C rs1282412666 0.00001
NM_017415.3(KLHL3):c.*1434T>G rs886059949 0.00001
NM_017415.3(KLHL3):c.*149G>A rs886059957 0.00001
NM_017415.3(KLHL3):c.*2448C>T rs886059945 0.00001
NM_017415.3(KLHL3):c.*3913A>T rs529462576 0.00001
NM_017415.3(KLHL3):c.*3920T>G rs886059936 0.00001
NM_017415.3(KLHL3):c.*539G>A rs886059954 0.00001
NM_017415.3(KLHL3):c.-352G>A rs886059963 0.00001
NM_017415.3(KLHL3):c.1118A>G (p.Gln373Arg) rs766825906 0.00001
NM_017415.3(KLHL3):c.1289G>A (p.Arg430Gln) rs973800786 0.00001
NM_017415.3(KLHL3):c.1603G>A (p.Val535Ile) rs749298481 0.00001
NM_017415.3(KLHL3):c.420T>C (p.Cys140=) rs1012577761 0.00001
NM_018979.4(WNK1):c.*148T>C rs987808519 0.00001
NM_018979.4(WNK1):c.*2090T>C rs886048826 0.00001
NM_018979.4(WNK1):c.*2576_*2579dup rs886048832 0.00001
NM_018979.4(WNK1):c.*533G>C rs1274582557 0.00001
NM_018979.4(WNK1):c.*558G>C rs1364847769 0.00001
NM_018979.4(WNK1):c.-260G>T rs886049864 0.00001
NM_018979.4(WNK1):c.145G>A (p.Gly49Ser) rs1281317365 0.00001
NM_018979.4(WNK1):c.2465C>T (p.Ala822Val) rs1952968012 0.00001
NM_018979.4(WNK1):c.2508C>T (p.Leu836=) rs886049906 0.00001
NM_018979.4(WNK1):c.2625G>A (p.Thr875=) rs763000812 0.00001
NM_018979.4(WNK1):c.264C>T (p.Ser88=) rs773586473 0.00001
NM_018979.4(WNK1):c.266A>G (p.Asn89Ser) rs886049866 0.00001
NM_018979.4(WNK1):c.2969A>G (p.Tyr990Cys) rs886049923 0.00001
NM_018979.4(WNK1):c.3354A>C (p.Pro1118=) rs549781052 0.00001
NM_018979.4(WNK1):c.3662A>G (p.Gln1221Arg) rs886049925 0.00001
NM_018979.4(WNK1):c.5041T>C (p.Ser1681Pro) rs1565585036 0.00001
NM_018979.4(WNK1):c.5294G>C (p.Gly1765Ala) rs756087008 0.00001
NM_018979.4(WNK1):c.5878G>T (p.Val1960Leu) rs1010227759 0.00001
NM_018979.4(WNK1):c.6101A>G (p.His2034Arg) rs72650766 0.00001
NM_018979.4(WNK1):c.7008A>G (p.Gln2336=) rs369782445 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.3223C>T (p.Arg1075Cys) rs201421543 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.560C>T (p.Thr187Met) rs1186879600 0.00001
NM_032387.5(WNK4):c.643C>T (p.Arg215Trp) rs758123242 0.00001
NM_000336.3(SCNN1B):c.*446C>A rs1452320359
NM_000336.3(SCNN1B):c.1069C>A (p.Pro357Thr) rs932297365
NM_000336.3(SCNN1B):c.1270+11G>T rs369905217
NM_000336.3(SCNN1B):c.1271-10T>C rs886051814
NM_000336.3(SCNN1B):c.1336G>A (p.Glu446Lys) rs1962919047
NM_000336.3(SCNN1B):c.1404+15G>A rs886051815
NM_000336.3(SCNN1B):c.1560G>A (p.Ser520=) rs146440372
NM_000336.3(SCNN1B):c.1560G>C (p.Ser520=) rs146440372
NM_000336.3(SCNN1B):c.1745T>A (p.Val582Glu) rs1963026711
NM_000336.3(SCNN1B):c.748C>G (p.Leu250Val) rs1962399992
NM_000336.3(SCNN1B):c.776+9C>A rs1962401157
NM_000901.4(NR3C2):c.-328C>T rs886059134
NM_000901.5(NR3C2):c.*1032G>C rs61763141
NM_000901.5(NR3C2):c.*124G>C rs1730537936
NM_000901.5(NR3C2):c.*1290G>A rs773710218
NM_000901.5(NR3C2):c.*1465G>A rs886059124
NM_000901.5(NR3C2):c.*1797A>G rs1730444075
NM_000901.5(NR3C2):c.*1905_*1907dup rs886059120
NM_000901.5(NR3C2):c.*2296T>C rs1167354543
NM_000901.5(NR3C2):c.*2345T>C rs886059119
NM_000901.5(NR3C2):c.*2578T>G rs1730405375
NM_000901.5(NR3C2):c.*324C>T rs886059128
NM_000901.5(NR3C2):c.*442_*444del rs769087750
NM_000901.5(NR3C2):c.*474_*475insTAA rs886059126
NM_000901.5(NR3C2):c.*813G>A rs1347200463
NM_000901.5(NR3C2):c.*90A>G rs1730539707
NM_000901.5(NR3C2):c.*924C>T rs941511610
NM_000901.5(NR3C2):c.-14C>G rs886059131
NM_000901.5(NR3C2):c.-5C>A rs1750377090
NM_000901.5(NR3C2):c.1559G>T (p.Gly520Val) rs754916440
NM_000901.5(NR3C2):c.1686A>C (p.Ser562=) rs1456002649
NM_000901.5(NR3C2):c.2055C>A (p.His685Gln) rs772344575
NM_000901.5(NR3C2):c.2102C>G (p.Pro701Arg) rs754694314
NM_000901.5(NR3C2):c.215C>G (p.Pro72Arg) rs1750090601
NM_000901.5(NR3C2):c.2840G>C (p.Arg947Pro) rs1730554872
NM_000901.5(NR3C2):c.822C>A (p.Ser274Arg) rs186788495
NM_000901.5(NR3C2):c.934A>G (p.Ser312Gly) rs1750038176
NM_001001433.3(STX16):c.*2347_*2348insAAA rs761666161
NM_001001433.3(STX16):c.*2348del rs886056863
NM_001001433.3(STX16):c.*2363_*2366dup rs10695175
NM_001001433.3(STX16):c.*2364_*2366dup rs10695175
NM_001001433.3(STX16):c.*2496del rs886056865
NM_001038.6(SCNN1A):c.*1020G>T rs1565473402
NM_001038.6(SCNN1A):c.*386G>A rs1948277951
NM_001038.6(SCNN1A):c.*580A>C rs886049754
NM_001038.6(SCNN1A):c.-54-13G>A rs573341191
NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly) rs569195112
NM_001038.6(SCNN1A):c.1361G>A (p.Gly454Glu) rs72657557
NM_001038.6(SCNN1A):c.147C>T (p.Ile49=) rs200770604
NM_001038.6(SCNN1A):c.1491A>G (p.Thr497=) rs1948324086
NM_001038.6(SCNN1A):c.2004G>T (p.Gly668=) rs539360032
NM_001038.6(SCNN1A):c.74A>G (p.Lys25Arg) rs768767909
NM_001039.4(SCNN1G):c.*1243C>T rs527408442
NM_001039.4(SCNN1G):c.*1273C>T rs1960163702
NM_001039.4(SCNN1G):c.*1287C>T rs927733196
NM_001039.4(SCNN1G):c.*584G>A rs886051802
NM_001039.4(SCNN1G):c.*789T>G rs9923016
NM_001039.4(SCNN1G):c.*789_*790delinsCT rs386789797
NM_001039.4(SCNN1G):c.1378A>G (p.Lys460Glu) rs886051801
NM_001039.4(SCNN1G):c.1724G>C (p.Trp575Ser) rs1960141342
NM_001039.4(SCNN1G):c.589G>C (p.Glu197Gln) rs5738
NM_001039.4(SCNN1G):c.663G>T (p.Ser221=) rs886051800
NM_003590.5(CUL3):c.*1451AAC[1] rs756120079
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.*2037del rs770315174
NM_003590.5(CUL3):c.*207G>A rs886055694
NM_003590.5(CUL3):c.*2584T>C rs886055685
NM_003590.5(CUL3):c.*2851A>C rs1691124781
NM_003590.5(CUL3):c.*2946_*2949del rs886055682
NM_003590.5(CUL3):c.*499T>C rs1691214301
NM_003590.5(CUL3):c.*527A>G rs1171555841
NM_003590.5(CUL3):c.*784G>A rs1224616813
NM_003590.5(CUL3):c.-118C>G rs1695550733
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.-291A>T rs1695560106
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
NM_017415.3(KLHL3):c.*1846C>A rs1756356732
NM_017415.3(KLHL3):c.*2168T>C rs886059946
NM_017415.3(KLHL3):c.*2472A>C rs886059944
NM_017415.3(KLHL3):c.*295GT[11] rs3839339
NM_017415.3(KLHL3):c.*295GT[12] rs3839339
NM_017415.3(KLHL3):c.*3203_*3205del rs886059943
NM_017415.3(KLHL3):c.*3204_*3205insT rs774186035
NM_017415.3(KLHL3):c.*3205_*3206insTT rs147517371
NM_017415.3(KLHL3):c.*3206A>T rs1425878478
NM_017415.3(KLHL3):c.*3207_*3208del rs369833337
NM_017415.3(KLHL3):c.*3208del rs369833337
NM_017415.3(KLHL3):c.*3209dup rs886059941
NM_017415.3(KLHL3):c.*3339_*3340insT rs886059939
NM_017415.3(KLHL3):c.*3341del rs886059938
NM_017415.3(KLHL3):c.*3410T>G rs1031836495
NM_017415.3(KLHL3):c.*3473T>C rs886059937
NM_017415.3(KLHL3):c.*4202G>C rs935025525
NM_017415.3(KLHL3):c.*481G>A rs886059956
NM_017415.3(KLHL3):c.*591_*594del rs886059953
NM_017415.3(KLHL3):c.*681C>T rs1750293151
NM_017415.3(KLHL3):c.*748T>C rs886059952
NM_017415.3(KLHL3):c.-170T>C rs886059960
NM_017415.3(KLHL3):c.14+11A>T rs886059959
NM_017415.3(KLHL3):c.1570A>C (p.Asn524His) rs1750534995
NM_017415.3(KLHL3):c.1725G>A (p.Arg575=) rs1750443613
NM_017415.3(KLHL3):c.406C>T (p.Arg136Trp) rs1752345984
NM_017415.3(KLHL3):c.730T>C (p.Leu244=) rs1561595683
NM_017415.3(KLHL3):c.770C>G (p.Ala257Gly) rs886059958
NM_018979.4(WNK1):c.*1132_*1133del rs546217405
NM_018979.4(WNK1):c.*1342G>A rs77954451
NM_018979.4(WNK1):c.*1347del rs886048817
NM_018979.4(WNK1):c.*1678C>G rs1956004391
NM_018979.4(WNK1):c.*1690T>C rs886048818
NM_018979.4(WNK1):c.*176C>A rs528692788
NM_018979.4(WNK1):c.*176C>T rs528692788
NM_018979.4(WNK1):c.*1869A>G rs886048821
NM_018979.4(WNK1):c.*1904CAC[5] rs778502996
NM_018979.4(WNK1):c.*1982C>T rs1592289088
NM_018979.4(WNK1):c.*1990G>A rs886048825
NM_018979.4(WNK1):c.*2134G>C rs1956037581
NM_018979.4(WNK1):c.*2192_*2196dup rs568163399
NM_018979.4(WNK1):c.*2378_*2381dup rs1399161251
NM_018979.4(WNK1):c.*290A>C rs1955927201
NM_018979.4(WNK1):c.*378A>G rs886048804
NM_018979.4(WNK1):c.*389C>T rs886048805
NM_018979.4(WNK1):c.*463C>A rs886048806
NM_018979.4(WNK1):c.*628del rs886048808
NM_018979.4(WNK1):c.*628dup rs886048808
NM_018979.4(WNK1):c.*643G>A rs886048811
NM_018979.4(WNK1):c.*701T>C rs1955947053
NM_018979.4(WNK1):c.*762CT[1] rs886048813
NM_018979.4(WNK1):c.*766G>A rs886048814
NM_018979.4(WNK1):c.*772_*776del rs886048815
NM_018979.4(WNK1):c.-263C>A rs886049863
NM_018979.4(WNK1):c.-308G>T rs886049861
NM_018979.4(WNK1):c.-351dup rs886049860
NM_018979.4(WNK1):c.-373G>C rs926467368
NM_018979.4(WNK1):c.1790G>A (p.Ser597Asn) rs757732497
NM_018979.4(WNK1):c.202G>A (p.Ala68Thr) rs886049865
NM_018979.4(WNK1):c.2246C>T (p.Ala749Val) rs886049905
NM_018979.4(WNK1):c.2333A>G (p.Gln778Arg) rs72649879
NM_018979.4(WNK1):c.3175A>G (p.Thr1059Ala) rs886049924
NM_018979.4(WNK1):c.3468C>G (p.Pro1156=) rs753078534
NM_018979.4(WNK1):c.3986C>G (p.Thr1329Arg) rs1490023753
NM_018979.4(WNK1):c.4091A>G (p.Asn1364Ser) rs770784437
NM_018979.4(WNK1):c.4490C>T (p.Ser1497Leu) rs1953551018
NM_018979.4(WNK1):c.4830G>A (p.Val1610=) rs1953580574
NM_018979.4(WNK1):c.4855C>A (p.His1619Asn) rs1953582555
NM_018979.4(WNK1):c.491G>T (p.Arg164Leu) rs886049867
NM_018979.4(WNK1):c.5370G>T (p.Gln1790His) rs773797682
NM_018979.4(WNK1):c.6442C>G (p.Leu2148Val) rs886048786
NM_018979.4(WNK1):c.6825T>C (p.Asn2275=) rs374193324
NM_018979.4(WNK1):c.7139G>A (p.Arg2380Gln) rs531919850
NM_018979.4(WNK1):c.99C>T (p.Ser33=) rs748052079
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.1741+9C>G rs2054563885
NM_032387.5(WNK4):c.1809G>A (p.Gln603=) rs768020150
NM_032387.5(WNK4):c.2264T>A (p.Met755Lys) rs2054629400
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.316C>A (p.Pro106Thr) rs2054476902
NM_032387.5(WNK4):c.3409G>A (p.Glu1137Lys) rs773000314
NM_032387.5(WNK4):c.3595C>T (p.Arg1199Cys) rs200519604
NM_032387.5(WNK4):c.79C>G (p.Pro27Ala) rs749459405

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