ClinVar Miner

List of variants studied for Liddle syndrome

Included ClinVar conditions (4):
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Minimum conflict level:
ClinVar version:
Total variants: 102
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HGVS dbSNP
NM_000336.2(SCNN1B):c.-150C>G rs530631658
NM_000336.3(SCNN1B):c.*187G>A rs886051816
NM_000336.3(SCNN1B):c.*20G>A rs755277136
NM_000336.3(SCNN1B):c.*278C>T rs549628659
NM_000336.3(SCNN1B):c.*94G>A rs72654359
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys) rs61729788
NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=) rs2303156
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=) rs2303155
NM_000336.3(SCNN1B):c.1270+11G>T rs369905217
NM_000336.3(SCNN1B):c.1270+14C>T rs141909058
NM_000336.3(SCNN1B):c.1271-10T>C rs886051814
NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val) rs1799980
NM_000336.3(SCNN1B):c.1346+8C>T rs200714599
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) rs74012901
NM_000336.3(SCNN1B):c.1404+15G>A rs886051815
NM_000336.3(SCNN1B):c.1419C>T (p.His473=) rs193211556
NM_000336.3(SCNN1B):c.1467-14G>A rs34618783
NM_000336.3(SCNN1B):c.1514G>A (p.Arg505His) rs138784278
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=) rs61759916
NM_000336.3(SCNN1B):c.159C>T (p.Phe53=) rs749106839
NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=) rs541449814
NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter) rs137852704
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806
NM_000336.3(SCNN1B):c.1713C>T (p.Tyr571=) rs758251652
NM_000336.3(SCNN1B):c.1760A>G (p.Asn587Ser)
NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=) rs762486495
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628
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.1858T>C (p.Tyr620His) rs137852707
NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln) rs72654356
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=) rs61759917
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His) rs776613953
NM_000336.3(SCNN1B):c.246C>T (p.Ser82=) rs757137077
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=) rs238547
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) rs139950628
NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe) rs199810483
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) rs139310448
NM_000336.3(SCNN1B):c.561C>T (p.His187=) rs773448523
NM_000336.3(SCNN1B):c.586-15T>C rs371098444
NM_000336.3(SCNN1B):c.753C>T (p.Phe251=) rs748167291
NM_000336.3(SCNN1B):c.777-5T>C rs61759915
NM_000336.3(SCNN1B):c.879C>T (p.Phe293=) rs250563
NM_001038.6(SCNN1A):c.1435T>C (p.Cys479Arg)
NM_001039.4(SCNN1G):c.*106G>A rs550094178
NM_001039.4(SCNN1G):c.*1147A>G rs80081880
NM_001039.4(SCNN1G):c.*1198A>T rs72647547
NM_001039.4(SCNN1G):c.*1261G>A rs8043698
NM_001039.4(SCNN1G):c.*1369C>T rs72647549
NM_001039.4(SCNN1G):c.*1370G>A rs72647550
NM_001039.4(SCNN1G):c.*154G>T rs571729989
NM_001039.4(SCNN1G):c.*159T>G rs3026
NM_001039.4(SCNN1G):c.*236C>T rs5726
NM_001039.4(SCNN1G):c.*268G>A rs5727
NM_001039.4(SCNN1G):c.*328G>A rs56153525
NM_001039.4(SCNN1G):c.*572A>G rs5728
NM_001039.4(SCNN1G):c.*584G>A rs886051802
NM_001039.4(SCNN1G):c.*597dup rs566227302
NM_001039.4(SCNN1G):c.*606T>A rs5729
NM_001039.4(SCNN1G):c.*659T>C rs9922851
NM_001039.4(SCNN1G):c.*675A>G rs5730
NM_001039.4(SCNN1G):c.*789T>C rs9923016
NM_001039.4(SCNN1G):c.*789_*790delinsCT rs386789797
NM_001039.4(SCNN1G):c.*790C>T rs9932505
NM_001039.4(SCNN1G):c.*979T>C rs540231207
NM_001039.4(SCNN1G):c.-23G>A rs762522517
NM_001039.4(SCNN1G):c.-31A>G rs5732
NM_001039.4(SCNN1G):c.-44-4C>G rs5731
NM_001039.4(SCNN1G):c.1083G>A (p.Glu361=) rs752432261
NM_001039.4(SCNN1G):c.1176+14A>G rs5740
NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg) rs202142122
NM_001039.4(SCNN1G):c.1378A>G (p.Lys460Glu) rs886051801
NM_001039.4(SCNN1G):c.1432-7G>A rs13306653
NM_001039.4(SCNN1G):c.1452C>A (p.Leu484=) rs72647527
NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr) rs144653364
NM_001039.4(SCNN1G):c.1569+10G>A rs13306659
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) rs72647541
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) rs148985177
NM_001039.4(SCNN1G):c.1718G>A (p.Trp573Ter) rs137853342
NM_001039.4(SCNN1G):c.1749_1753del (p.Glu583fs) rs1567270184
NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe) rs745715995
NM_001039.4(SCNN1G):c.1947C>G (p.Leu649=) rs5723
NM_001039.4(SCNN1G):c.387T>C (p.Tyr129=) rs5734
NM_001039.4(SCNN1G):c.399G>A (p.Glu133=) rs200985912
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702
NM_001039.4(SCNN1G):c.446G>C (p.Gly149Ala) rs754747376
NM_001039.4(SCNN1G):c.474T>C (p.Ile158=) rs5735
NM_001039.4(SCNN1G):c.477G>A (p.Pro159=) rs145602271
NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp) rs763601481
NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln) rs546893551
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736
NM_001039.4(SCNN1G):c.549C>T (p.Gly183=) rs5737
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) rs5739
NM_001039.4(SCNN1G):c.663G>T (p.Ser221=) rs886051800
NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn) rs72646501
SCNN1B, 1-BP INS, 592C
SCNN1B, 32-BP DEL
SCNN1G, ASN530SER
SCNN1G, GLN567TER

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