ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive pseudohypoaldosteronism type 1 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NM_000336.3(SCNN1B):c.*187G>A rs886051816
NM_000336.3(SCNN1B):c.*94G>A rs72654359
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser) rs137852706
NM_000336.3(SCNN1B):c.1270+11G>T rs369905217
NM_000336.3(SCNN1B):c.1271-10T>C rs886051814
NM_000336.3(SCNN1B):c.1404+15G>A rs886051815
NM_000336.3(SCNN1B):c.1514G>A (p.Arg505His) rs138784278
NM_000336.3(SCNN1B):c.159C>T (p.Phe53=) rs749106839
NM_000336.3(SCNN1B):c.1713C>T (p.Tyr571=) rs758251652
NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=) rs762486495
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.428C>T (p.Ser143Phe) rs199810483
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_001038.6(SCNN1A):c.*114G>A rs886049756
NM_001038.6(SCNN1A):c.*415C>T rs886049755
NM_001038.6(SCNN1A):c.*580A>C rs886049754
NM_001038.6(SCNN1A):c.*590C>G rs886049753
NM_001038.6(SCNN1A):c.*736T>G rs886049752
NM_001038.6(SCNN1A):c.-55+2T>C
NM_001038.6(SCNN1A):c.1048C>G (p.Arg350Gly) rs181065138
NM_001038.6(SCNN1A):c.1177G>A (p.Asp393Asn) rs886049758
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile) rs149484264
NM_001038.6(SCNN1A):c.1241A>G (p.Gln414Arg) rs886049757
NM_001038.6(SCNN1A):c.1299C>T (p.Tyr433=) rs375712066
NM_001038.6(SCNN1A):c.1766G>A (p.Arg589Gln) rs775290860
NM_001038.6(SCNN1A):c.1771C>T (p.Arg591Ter) rs771949339
NM_001038.6(SCNN1A):c.648G>A (p.Gln216=) rs780536807
NM_001038.6(SCNN1A):c.746G>A (p.Arg249Lys) rs142409152
NM_001038.6(SCNN1A):c.74A>G (p.Lys25Arg) rs768767909
NM_001038.6(SCNN1A):c.826G>T (p.Gly276Cys) rs759933475
NM_001038.6(SCNN1A):c.840C>T (p.Phe280=) rs139335335
NM_001038.6(SCNN1A):c.944A>G (p.Asn315Ser) rs886049759
NM_001039.4(SCNN1G):c.*1147A>G rs80081880
NM_001039.4(SCNN1G):c.*584G>A rs886051802
NM_001039.4(SCNN1G):c.*789_*790delinsCT rs386789797
NM_001039.4(SCNN1G):c.1083G>A (p.Glu361=) rs752432261
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.446G>C (p.Gly149Ala) rs754747376
NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp) rs763601481
NM_001039.4(SCNN1G):c.663G>T (p.Ser221=) rs886051800
NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn) rs72646501

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