ClinVar Miner

List of variants in gene NR5A1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_004959.5(NR5A1):c.*82C>T rs915034 0.57051
NM_004959.5(NR5A1):c.1139-245T>C rs2416933 0.56764
NM_004959.5(NR5A1):c.1139-274G>C rs915033 0.56679
NM_004959.5(NR5A1):c.1139-128G>A rs7037254 0.42960
NM_004959.5(NR5A1):c.437G>C (p.Gly146Ala) rs1110061 0.24774
NM_004959.5(NR5A1):c.1138+41A>G rs762384009 0.20655
NM_004959.5(NR5A1):c.244+72G>T rs115601896 0.05020
NM_004959.5(NR5A1):c.245-90C>T rs1889311 0.04436
NM_004959.5(NR5A1):c.375G>A (p.Pro125=) rs1110062 0.02157
NM_004959.5(NR5A1):c.225G>C (p.Thr75=) rs138805488 0.02031
NM_004959.5(NR5A1):c.1139-112T>C rs116575632 0.01523
NM_004959.5(NR5A1):c.1353G>A (p.Leu451=) rs79833327 0.01487
NM_004959.5(NR5A1):c.991-49C>T rs188477234 0.01221
NM_004959.5(NR5A1):c.594G>A (p.Pro198=) rs142414614 0.01212
NM_004959.5(NR5A1):c.516C>T (p.Ala172=) rs113506523 0.01105
NM_004959.5(NR5A1):c.871-186T>C rs116836172 0.00779
NM_004959.5(NR5A1):c.991-161T>C rs192922893 0.00779
NM_004959.5(NR5A1):c.871-98T>C rs183899273 0.00778
NM_004959.5(NR5A1):c.991-164T>C rs184776788 0.00754
NM_004959.5(NR5A1):c.244+45G>T rs377234097 0.00646
NM_004959.5(NR5A1):c.245-238G>A rs116775530 0.00645
NM_004959.5(NR5A1):c.245-319C>T rs147497093 0.00518
NM_004959.5(NR5A1):c.1139-161C>T rs115065315 0.00435
NM_004959.5(NR5A1):c.990+280T>C rs187098744 0.00332
NM_004959.5(NR5A1):c.633C>T (p.Tyr211=) rs374363746 0.00162
NM_004959.5(NR5A1):c.368G>C (p.Gly123Ala) rs200163795 0.00098
NM_004959.5(NR5A1):c.386C>T (p.Pro129Leu) rs200749741 0.00095
NM_004959.5(NR5A1):c.1314C>T (p.Tyr438=) rs142188133 0.00029
NM_004959.5(NR5A1):c.593C>T (p.Pro198Leu) rs774216266 0.00007
NM_004959.5(NR5A1):c.951C>T (p.His317=) rs147024762 0.00005
NM_004959.5(NR5A1):c.-6G>A rs571770910 0.00004
NM_004959.5(NR5A1):c.769G>A (p.Asp257Asn) rs141502483 0.00003
NM_004959.5(NR5A1):c.704C>T (p.Pro235Leu) rs199761539 0.00002
NM_004959.5(NR5A1):c.1197C>T (p.Ala399=) rs764850069 0.00001
NM_004959.5(NR5A1):c.162C>A (p.Ser54Arg) rs759670090 0.00001
NM_004959.5(NR5A1):c.250C>T (p.Arg84Cys) rs1832458239 0.00001
NM_004959.5(NR5A1):c.521C>T (p.Pro174Leu) rs746821998 0.00001
NM_004959.5(NR5A1):c.737G>A (p.Gly246Asp) rs751335447 0.00001
NM_004959.5(NR5A1):c.*173del rs5900617
NM_004959.5(NR5A1):c.1063_1083dup (p.Val355_Leu361dup) rs1554721033
NM_004959.5(NR5A1):c.1112T>G (p.Leu371Arg) rs2538674039
NM_004959.5(NR5A1):c.1138+44C>G rs750025915
NM_004959.5(NR5A1):c.1172_1208dup (p.Asp403delinsGluArgArgSerGlyGluGlyGlnArgArgProAlaTer) rs1588613754
NM_004959.5(NR5A1):c.1180C>G (p.Gln394Glu) rs1057518497
NM_004959.5(NR5A1):c.1184A>G (p.Glu395Gly) rs2131269315
NM_004959.5(NR5A1):c.1379A>G (p.Gln460Arg) rs146454575
NM_004959.5(NR5A1):c.143C>T (p.Thr48Met)
NM_004959.5(NR5A1):c.185G>A (p.Arg62His) rs1832493571
NM_004959.5(NR5A1):c.197C>T (p.Pro66Leu) rs2131289746
NM_004959.5(NR5A1):c.205C>T (p.Arg69Cys) rs2131289737
NM_004959.5(NR5A1):c.225G>A (p.Thr75=) rs138805488
NM_004959.5(NR5A1):c.245-311dup rs769367534
NM_004959.5(NR5A1):c.271G>A (p.Gly91Ser) rs104894126
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004959.5(NR5A1):c.308G>C (p.Arg103Pro)
NM_004959.5(NR5A1):c.398del (p.Pro133fs) rs1588622082
NM_004959.5(NR5A1):c.445C>G (p.Pro149Ala)
NM_004959.5(NR5A1):c.462_473del (p.Pro157_Pro160del)
NM_004959.5(NR5A1):c.64G>A (p.Gly22Ser) rs2538687495
NM_004959.5(NR5A1):c.835T>A (p.Trp279Arg) rs1064794281
NM_004959.5(NR5A1):c.848G>A (p.Cys283Tyr) rs2538683556
NM_004959.5(NR5A1):c.871-1G>C rs2538676471
NM_004959.5(NR5A1):c.871-20C>T rs2297605
NM_004959.5(NR5A1):c.880C>G (p.Gln294Glu) rs2538676433
NM_004959.5(NR5A1):c.881A>G (p.Gln294Arg)
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) rs1057517779
NM_004959.5(NR5A1):c.938G>A (p.Arg313His) rs1554721235
NM_004959.5(NR5A1):c.952G>A (p.Gly318Ser)
NM_004959.5(NR5A1):c.974T>C (p.Leu325Pro)

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