ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant pseudohypoaldosteronism type 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000901.5(NR3C2):c.1172A>G (p.Gln391Arg) rs569010694 0.00005
NM_000901.5(NR3C2):c.334G>C (p.Val112Leu) rs1330903694 0.00002
NM_000901.5(NR3C2):c.1513G>A (p.Glu505Lys) rs774066754 0.00001
NM_000901.5(NR3C2):c.1031C>T (p.Thr344Ile)
NM_000901.5(NR3C2):c.1042A>C (p.Thr348Pro)
NM_000901.5(NR3C2):c.104A>G (p.Glu35Gly)
NM_000901.5(NR3C2):c.1064T>G (p.Leu355Trp)
NM_000901.5(NR3C2):c.1094A>G (p.Gln365Arg)
NM_000901.5(NR3C2):c.1109A>G (p.Gln370Arg)
NM_000901.5(NR3C2):c.112G>T (p.Asp38Tyr)
NM_000901.5(NR3C2):c.1179T>A (p.Asn393Lys)
NM_000901.5(NR3C2):c.119A>G (p.Asn40Ser)
NM_000901.5(NR3C2):c.1204C>A (p.Pro402Thr)
NM_000901.5(NR3C2):c.1205C>T (p.Pro402Leu)
NM_000901.5(NR3C2):c.1245C>G (p.Ser415Arg)
NM_000901.5(NR3C2):c.1375T>C (p.Ser459Pro)
NM_000901.5(NR3C2):c.141C>A (p.Asn47Lys)
NM_000901.5(NR3C2):c.1454_1462del (p.Glu485_Ser487del)
NM_000901.5(NR3C2):c.149G>T (p.Cys50Phe)
NM_000901.5(NR3C2):c.1526C>G (p.Pro509Arg)
NM_000901.5(NR3C2):c.1537A>G (p.Ile513Val)
NM_000901.5(NR3C2):c.1596A>G (p.Thr532=)
NM_000901.5(NR3C2):c.1610G>A (p.Arg537Gln)
NM_000901.5(NR3C2):c.1612T>G (p.Ser538Ala)
NM_000901.5(NR3C2):c.1621G>T (p.Asp541Tyr)
NM_000901.5(NR3C2):c.163A>T (p.Ile55Phe)
NM_000901.5(NR3C2):c.1654C>T (p.Pro552Ser)
NM_000901.5(NR3C2):c.1660A>T (p.Asn554Tyr)
NM_000901.5(NR3C2):c.1661A>C (p.Asn554Thr)
NM_000901.5(NR3C2):c.166C>G (p.Pro56Ala)
NM_000901.5(NR3C2):c.1701G>T (p.Ser567=)
NM_000901.5(NR3C2):c.1724C>T (p.Pro575Leu)
NM_000901.5(NR3C2):c.1757+3A>G
NM_000901.5(NR3C2):c.1892T>A (p.Val631Glu)
NM_000901.5(NR3C2):c.2018G>A (p.Arg673Gln) rs1420676853
NM_000901.5(NR3C2):c.2055C>A (p.His685Gln) rs772344575
NM_000901.5(NR3C2):c.2071C>A (p.Gln691Lys)
NM_000901.5(NR3C2):c.2092C>T (p.Pro698Ser)
NM_000901.5(NR3C2):c.2133C>G (p.Ile711Met)
NM_000901.5(NR3C2):c.2134G>T (p.Ala712Ser)
NM_000901.5(NR3C2):c.2145A>G (p.Lys715=)
NM_000901.5(NR3C2):c.2151C>T (p.Pro717=)
NM_000901.5(NR3C2):c.2195G>A (p.Arg732Gln)
NM_000901.5(NR3C2):c.2198C>A (p.Ala733Glu)
NM_000901.5(NR3C2):c.2233A>G (p.Ile745Val)
NM_000901.5(NR3C2):c.2287G>C (p.Glu763Gln)
NM_000901.5(NR3C2):c.2311C>A (p.Arg771Ser)
NM_000901.5(NR3C2):c.2324A>G (p.Lys775Arg)
NM_000901.5(NR3C2):c.2341G>A (p.Val781Met)
NM_000901.5(NR3C2):c.2392C>A (p.Gln798Lys)
NM_000901.5(NR3C2):c.239G>A (p.Arg80Gln)
NM_000901.5(NR3C2):c.2429C>T (p.Ser810Leu) rs41511344
NM_000901.5(NR3C2):c.2474A>G (p.Gln825Arg)
NM_000901.5(NR3C2):c.262A>G (p.Ile88Val)
NM_000901.5(NR3C2):c.2789C>G (p.Ser930Cys)
NM_000901.5(NR3C2):c.2809G>A (p.Asp937Asn) rs886059129
NM_000901.5(NR3C2):c.289C>A (p.Leu97Ile)
NM_000901.5(NR3C2):c.2909A>T (p.Lys970Met)
NM_000901.5(NR3C2):c.2911G>A (p.Val971Met)
NM_000901.5(NR3C2):c.2944C>T (p.His982Tyr)
NM_000901.5(NR3C2):c.320_322dup (p.Leu107_Tyr108insLeu)
NM_000901.5(NR3C2):c.355T>C (p.Tyr119His)
NM_000901.5(NR3C2):c.382A>G (p.Met128Val)
NM_000901.5(NR3C2):c.391G>C (p.Ala131Pro)
NM_000901.5(NR3C2):c.403C>G (p.Gln135Glu)
NM_000901.5(NR3C2):c.543_566del (p.Ile185_Pro192del)
NM_000901.5(NR3C2):c.577T>C (p.Ser193Pro)
NM_000901.5(NR3C2):c.596A>T (p.Asn199Ile)
NM_000901.5(NR3C2):c.598A>C (p.Met200Leu)
NM_000901.5(NR3C2):c.605C>G (p.Ser202Cys)
NM_000901.5(NR3C2):c.65T>A (p.Val22Asp)
NM_000901.5(NR3C2):c.673G>T (p.Val225Leu)
NM_000901.5(NR3C2):c.712T>A (p.Ser238Thr)
NM_000901.5(NR3C2):c.822C>G (p.Ser274Arg)
NM_000901.5(NR3C2):c.908T>C (p.Ile303Thr)
NM_000901.5(NR3C2):c.90C>T (p.Ser30=) rs757033341
NM_000901.5(NR3C2):c.934A>G (p.Ser312Gly) rs1750038176
NM_000901.5(NR3C2):c.974C>T (p.Pro325Leu)
NM_000901.5(NR3C2):c.989T>C (p.Val330Ala)

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.