ClinVar Miner

List of variants in gene SCNN1G reported as uncertain significance for Autosomal recessive pseudohypoaldosteronism type 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.*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.477G>A (p.Pro159=) rs145602271 0.00015
NM_001039.4(SCNN1G):c.*1147A>G rs80081880 0.00009
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.576T>A (p.Asn192Lys) rs1001641230 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.*789_*790delinsCT rs386789797
NM_001039.4(SCNN1G):c.1177-7C>T rs1488754125
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.