ClinVar Miner

List of variants reported as benign for Liddle syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_001039.4(SCNN1G):c.1176+14A>G rs5740 0.75623
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=) rs238547 0.66128
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_001039.4(SCNN1G):c.*675A>G rs5730 0.22311
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.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_001039.4(SCNN1G):c.636C>T (p.Ser212=) rs5739 0.01794
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_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_001039.4(SCNN1G):c.*1198A>T rs72647547 0.00364
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_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.1545C>T (p.Ile515=) rs61759916 0.00155
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_001039.4(SCNN1G):c.1575G>A (p.Glu525=) rs72647541 0.00082
NM_001039.4(SCNN1G):c.1452C>A (p.Leu484=) rs72647527 0.00080
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_001039.4(SCNN1G):c.*230C>T rs72647546 0.00036
NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=) rs541449814 0.00023
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.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_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_001039.4(SCNN1G):c.*1147A>G rs80081880 0.00009
NM_000336.3(SCNN1B):c.1514G>A (p.Arg505His) rs138784278 0.00007
NM_000336.3(SCNN1B):c.1005C>T (p.Tyr335=) rs13306633 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_001039.4(SCNN1G):c.1861G>A (p.Gly621Ser) rs139012605 0.00006
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His) rs776613953 0.00004
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser) rs137852706 0.00001
NM_000336.3(SCNN1B):c.1419C>T (p.His473=) rs193211556 0.00001
NM_001039.4(SCNN1G):c.-23G>A rs762522517 0.00001
NM_000336.3(SCNN1B):c.1560G>A (p.Ser520=) rs146440372
NM_000336.3(SCNN1B):c.1560G>C (p.Ser520=) rs146440372

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