ClinVar Miner

List of variants studied for Liddle syndrome 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_001039.4(SCNN1G):c.1176+14A>G rs5740 0.75623
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_001039.4(SCNN1G):c.549C>T (p.Gly183=) rs5737 0.06659
NM_001039.4(SCNN1G):c.*1369C>T rs72647549 0.03455
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_001039.4(SCNN1G):c.*1261G>A rs8043698 0.00958
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702 0.00695
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738 0.00548
NM_001039.4(SCNN1G):c.*1198A>T rs72647547 0.00364
NM_001039.4(SCNN1G):c.1569+10G>A rs13306659 0.00344
NM_001039.4(SCNN1G):c.*328G>A rs56153525 0.00197
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_001039.4(SCNN1G):c.*1370G>A rs72647550 0.00048
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_001039.4(SCNN1G):c.*979T>C rs540231207 0.00036
NM_001039.4(SCNN1G):c.*491G>A rs146413363 0.00020
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_001039.4(SCNN1G):c.*1147A>G rs80081880 0.00009
NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe) rs745715995 0.00008
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_001039.4(SCNN1G):c.*99C>T rs1418745552 0.00005
NM_001039.4(SCNN1G):c.132C>T (p.Ile44=) rs774767092 0.00005
NM_001039.4(SCNN1G):c.399G>A (p.Glu133=) rs200985912 0.00004
NM_001039.4(SCNN1G):c.1841C>T (p.Ala614Val) rs1474666302 0.00002
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_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.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

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