ClinVar Miner

List of variants studied for Liddle syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_001039.4(SCNN1G):c.1176+14A>G rs5740 0.75623
NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala) rs2228576 0.75229
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=) rs238547 0.66128
NM_001038.6(SCNN1A):c.1553+32G>A rs3764875 0.62475
NM_001039.4(SCNN1G):c.*572A>G rs5728 0.41693
NM_001039.4(SCNN1G):c.*659T>C rs9922851 0.41685
NM_001039.4(SCNN1G):c.*789T>C rs9923016 0.41470
NM_001039.4(SCNN1G):c.474T>C (p.Ile158=) rs5735 0.27157
NM_001039.4(SCNN1G):c.387T>C (p.Tyr129=) rs5734 0.27146
NM_000336.3(SCNN1B):c.1152+43G>A rs2303157 0.23323
NM_001039.4(SCNN1G):c.*675A>G rs5730 0.22311
NM_001039.4(SCNN1G):c.1493+33T>G rs13306654 0.21983
NM_001039.4(SCNN1G):c.*606T>A rs5729 0.21907
NM_001039.4(SCNN1G):c.*236C>T rs5726 0.21904
NM_001039.4(SCNN1G):c.*268G>A rs5727 0.21902
NM_001039.4(SCNN1G):c.1947C>G (p.Leu649=) rs5723 0.21902
NM_001039.4(SCNN1G):c.1494-49A>G rs11643517 0.21899
NM_001039.4(SCNN1G):c.1432-7G>A rs13306653 0.21894
NM_001039.4(SCNN1G):c.*159T>G rs3026 0.21892
NM_001039.4(SCNN1G):c.*790C>T rs9932505 0.21456
NM_001039.4(SCNN1G):c.-31A>G rs5732 0.20459
NM_001039.4(SCNN1G):c.-44-4C>G rs5731 0.20385
NM_000336.3(SCNN1B):c.879C>T (p.Phe293=) rs250563 0.10382
NM_001039.4(SCNN1G):c.549C>T (p.Gly183=) rs5737 0.06659
NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val) rs1799980 0.03941
NM_001039.4(SCNN1G):c.*1369C>T rs72647549 0.03455
NM_000336.3(SCNN1B):c.1467-14G>A rs34618783 0.02274
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=) rs55859427 0.01886
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) rs5739 0.01794
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736 0.01206
NM_001038.6(SCNN1A):c.99C>T (p.Pro33=) rs13306619 0.00986
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys) rs61729788 0.00962
NM_001039.4(SCNN1G):c.*1261G>A rs8043698 0.00958
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702 0.00695
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_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_001038.6(SCNN1A):c.684+9C>T rs111317117 0.00378
NM_001039.4(SCNN1G):c.*1198A>T rs72647547 0.00364
NM_001039.4(SCNN1G):c.1570-9G>A rs72647540 0.00354
NM_001039.4(SCNN1G):c.1569+10G>A rs13306659 0.00344
NM_000336.3(SCNN1B):c.777-5T>C rs61759915 0.00311
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) rs74012901 0.00290
NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=) rs61759923 0.00210
NM_001039.4(SCNN1G):c.*328G>A rs56153525 0.00197
NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln) rs72654356 0.00186
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926 0.00180
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=) rs61759916 0.00155
NM_000336.3(SCNN1B):c.147A>G (p.Lys49=) rs80027401 0.00141
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_000336.3(SCNN1B):c.1152+10T>C rs72654341 0.00108
NM_000336.3(SCNN1B):c.1190G>T (p.Arg397Leu) rs61729789 0.00101
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) rs72647541 0.00082
NM_001039.4(SCNN1G):c.1452C>A (p.Leu484=) rs72647527 0.00080
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) rs148985177 0.00069
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628 0.00063
NM_000336.3(SCNN1B):c.1270+14C>T rs141909058 0.00051
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806 0.00051
NM_001039.4(SCNN1G):c.*1370G>A rs72647550 0.00048
NM_000336.3(SCNN1B):c.1346+8C>T rs200714599 0.00046
NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn) rs72646501 0.00044
NM_001039.4(SCNN1G):c.1476A>G (p.Val492=) rs146420892 0.00043
NM_000336.3(SCNN1B):c.*241G>A rs529644900 0.00040
NM_000336.3(SCNN1B):c.*278C>T rs549628659 0.00038
NM_001039.4(SCNN1G):c.*230C>T rs72647546 0.00036
NM_001039.4(SCNN1G):c.*979T>C rs540231207 0.00036
NM_000336.3(SCNN1B):c.803A>G (p.His268Arg) rs138004955 0.00029
NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=) rs762486495 0.00024
NM_001039.4(SCNN1G):c.1532T>A (p.Leu511Gln) rs113234492 0.00024
NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=) rs541449814 0.00023
NM_000336.2(SCNN1B):c.-150C>G rs530631658 0.00022
NM_000336.3(SCNN1B):c.903A>G (p.Ile301Met) rs149667567 0.00021
NM_001038.6(SCNN1A):c.1426C>T (p.Arg476Trp) rs113622727 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_000336.3(SCNN1B):c.1299C>T (p.Ser433=) rs149172890 0.00019
NM_000336.3(SCNN1B):c.*94G>A rs72654359 0.00018
NM_000336.3(SCNN1B):c.1694G>A (p.Arg565Gln) rs13306627 0.00018
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=) rs2303155 0.00016
NM_000336.3(SCNN1B):c.1790G>A (p.Arg597His) rs140945152 0.00016
NM_001038.6(SCNN1A):c.1435T>C (p.Cys479Arg) rs201873521 0.00016
NM_001039.4(SCNN1G):c.*106G>A rs550094178 0.00016
NM_001039.4(SCNN1G):c.*154G>T rs571729989 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_000336.3(SCNN1B):c.1376T>C (p.Met459Thr) rs201369319 0.00011
NM_001038.6(SCNN1A):c.1074A>G (p.Glu358=) rs149430403 0.00011
NM_000336.3(SCNN1B):c.*20G>A rs755277136 0.00010
NM_001038.6(SCNN1A):c.1554A>G (p.Arg518=) rs570566104 0.00010
NM_001038.6(SCNN1A):c.997C>T (p.Arg333Cys) rs146177203 0.00010
NM_000336.3(SCNN1B):c.1789C>T (p.Arg597Cys) rs373718332 0.00009
NM_000336.3(SCNN1B):c.586-15T>C rs371098444 0.00009
NM_001039.4(SCNN1G):c.*1147A>G rs80081880 0.00009
NM_001039.4(SCNN1G):c.699C>T (p.His233=) rs192839222 0.00009
NM_000336.3(SCNN1B):c.467G>A (p.Arg156Gln) rs765336896 0.00008
NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe) rs745715995 0.00008
NM_000336.3(SCNN1B):c.1229G>A (p.Arg410His) rs200966246 0.00007
NM_000336.3(SCNN1B):c.1514G>A (p.Arg505His) rs138784278 0.00007
NM_000336.3(SCNN1B):c.1894G>A (p.Glu632Lys) rs140609339 0.00007
NM_000336.3(SCNN1B):c.1005C>T (p.Tyr335=) rs13306633 0.00006
NM_000336.3(SCNN1B):c.1322T>C (p.Ile441Thr) rs770635298 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_000336.3(SCNN1B):c.918C>T (p.Tyr306=) rs374264520 0.00006
NM_001038.6(SCNN1A):c.385G>A (p.Ala129Thr) rs141756749 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.470G>A (p.Arg157Gln) rs181420353 0.00006
NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln) rs546893551 0.00006
NM_001039.4(SCNN1G):c.*99C>T rs1418745552 0.00005
NM_001039.4(SCNN1G):c.132C>T (p.Ile44=) rs774767092 0.00005
NM_000336.3(SCNN1B):c.1713C>T (p.Tyr571=) rs758251652 0.00004
NM_000336.3(SCNN1B):c.1732G>A (p.Val578Met) rs745885983 0.00004
NM_000336.3(SCNN1B):c.177C>T (p.Phe59=) rs778937866 0.00004
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His) rs776613953 0.00004
NM_000336.3(SCNN1B):c.1904G>A (p.Ser635Asn) rs13306629 0.00004
NM_000336.3(SCNN1B):c.246C>T (p.Ser82=) rs757137077 0.00004
NM_001039.4(SCNN1G):c.399G>A (p.Glu133=) rs200985912 0.00004
NM_000336.3(SCNN1B):c.1404+7C>T rs1485041245 0.00003
NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln) rs201279350 0.00003
NM_001038.6(SCNN1A):c.1177G>A (p.Asp393Asn) rs886049758 0.00003
NM_000336.3(SCNN1B):c.*187G>A rs886051816 0.00002
NM_001038.6(SCNN1A):c.319G>A (p.Gly107Arg) rs144763378 0.00002
NM_001038.6(SCNN1A):c.457A>T (p.Ile153Phe) rs775335440 0.00002
NM_001039.4(SCNN1G):c.1841C>T (p.Ala614Val) rs1474666302 0.00002
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser) rs137852706 0.00001
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.1696C>T (p.Arg566Ter) rs137852704 0.00001
NM_000336.3(SCNN1B):c.1760A>G (p.Asn587Ser) rs769244277 0.00001
NM_000336.3(SCNN1B):c.561C>T (p.His187=) rs773448523 0.00001
NM_000336.3(SCNN1B):c.648dup (p.Glu217fs) rs747116196 0.00001
NM_000336.3(SCNN1B):c.753C>T (p.Phe251=) rs748167291 0.00001
NM_001038.6(SCNN1A):c.574del (p.Arg192fs) rs767638989 0.00001
NM_001038.6(SCNN1A):c.777C>G (p.Ile259Met) rs866913999 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.1455T>C (p.Thr485=) rs1270059843 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_000336.3(SCNN1B):c.*446C>A rs1452320359
NM_000336.3(SCNN1B):c.1069C>A (p.Pro357Thr) rs932297365
NM_000336.3(SCNN1B):c.1228C>T (p.Arg410Cys) rs200401219
NM_000336.3(SCNN1B):c.1256A>T (p.Asp419Val) rs1962882235
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.1595G>T (p.Gly532Val)
NM_000336.3(SCNN1B):c.1735_1766del (p.Ala579Leufs*4) rs2142050610
NM_000336.3(SCNN1B):c.1745T>A (p.Val582Glu) rs1963026711
NM_000336.3(SCNN1B):c.1847C>G (p.Pro616Arg) rs387906402
NM_000336.3(SCNN1B):c.1847C>T (p.Pro616Leu) rs387906402
NM_000336.3(SCNN1B):c.1849C>T (p.Pro617Ser) rs137852708
NM_000336.3(SCNN1B):c.1850C>T (p.Pro617Leu)
NM_000336.3(SCNN1B):c.1858T>C (p.Tyr620His) rs137852707
NM_000336.3(SCNN1B):c.530G>A (p.Ser177Asn) rs748962184
NM_000336.3(SCNN1B):c.590G>C (p.Ser197Thr)
NM_000336.3(SCNN1B):c.748C>G (p.Leu250Val) rs1962399992
NM_000336.3(SCNN1B):c.776+9C>A rs1962401157
NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu) rs137852709
NM_001038.6(SCNN1A):c.-54-13G>A rs573341191
NM_001038.6(SCNN1A):c.1361-3C>G
NM_001038.6(SCNN1A):c.1361G>A (p.Gly454Glu) rs72657557
NM_001038.6(SCNN1A):c.1439+1G>A rs1369791519
NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter) rs137852634
NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp) rs876657425
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) rs55797039
NM_001038.6(SCNN1A):c.69del (p.Asn24fs) rs1565488675
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.*597dup rs566227302
NM_001039.4(SCNN1G):c.*789T>G rs9923016
NM_001039.4(SCNN1G):c.*789_*790delinsCT rs386789797
NM_001039.4(SCNN1G):c.1078-17TGC[3]
NM_001039.4(SCNN1G):c.1373+29T>C rs12708649
NM_001039.4(SCNN1G):c.1378A>G (p.Lys460Glu) rs886051801
NM_001039.4(SCNN1G):c.142dup (p.Arg48fs) rs1596760831
NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr) rs144653364
NM_001039.4(SCNN1G):c.1699C>T (p.Gln567Ter) rs2141946607
NM_001039.4(SCNN1G):c.1718G>A (p.Trp573Ter) rs137853342
NM_001039.4(SCNN1G):c.1724G>C (p.Trp575Ser) rs1960141342
NM_001039.4(SCNN1G):c.1749_1753del (p.Glu583fs) rs1567270184
NM_001039.4(SCNN1G):c.1858C>G (p.Pro620Ala)
NM_001039.4(SCNN1G):c.589G>C (p.Glu197Gln) rs5738
NM_001039.4(SCNN1G):c.637G>A (p.Asp213Asn)
NM_001039.4(SCNN1G):c.663G>T (p.Ser221=) rs886051800
NM_001039.4(SCNN1G):c.819G>C (p.Thr273=) rs201341816
SCNN1B, 1-BP INS, 592C

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