ClinVar Miner

List of variants in gene NR5A1 studied for spermatogenic failure

Included ClinVar conditions (115):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 107
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004959.5(NR5A1):c.*82C>T rs915034 0.56771
NM_004959.5(NR5A1):c.437G>C (p.Gly146Ala) rs1110061 0.24774
NM_004959.5(NR5A1):c.225G>C (p.Thr75=) rs138805488 0.02176
NM_004959.5(NR5A1):c.375G>A (p.Pro125=) rs1110062 0.02157
NM_004959.5(NR5A1):c.1353G>A (p.Leu451=) rs79833327 0.01487
NM_004959.5(NR5A1):c.594G>A (p.Pro198=) rs142414614 0.01323
NM_004959.5(NR5A1):c.516C>T (p.Ala172=) rs113506523 0.01105
NM_004959.5(NR5A1):c.871-13C>T rs189724865 0.00397
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.493G>C (p.Gly165Arg) rs535621711 0.00025
NM_004959.5(NR5A1):c.420G>A (p.Leu140=) rs377377884 0.00014
NM_004959.5(NR5A1):c.870+17G>A rs367744822 0.00014
NM_004959.5(NR5A1):c.996G>A (p.Glu332=) rs375086246 0.00014
NM_004959.5(NR5A1):c.462C>T (p.Ala154=) rs776212991 0.00013
NM_004959.5(NR5A1):c.942G>A (p.Gln314=) rs201103618 0.00008
NM_004959.5(NR5A1):c.634G>A (p.Gly212Ser) rs201095702 0.00007
NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn) rs780568525 0.00006
NM_004959.5(NR5A1):c.87G>A (p.Thr29=) rs750190008 0.00004
NM_004959.5(NR5A1):c.400C>T (p.Pro134Ser) rs1012697512 0.00003
NM_004959.5(NR5A1):c.777G>A (p.Pro259=) rs529716231 0.00003
NM_004959.5(NR5A1):c.392C>T (p.Pro131Leu) rs387906690 0.00002
NM_004959.5(NR5A1):c.460G>A (p.Ala154Thr) rs761496130 0.00002
NM_004959.5(NR5A1):c.485G>T (p.Gly162Val) rs1380810335 0.00002
NM_004959.5(NR5A1):c.162C>A (p.Ser54Arg) rs759670090 0.00001
NM_004959.5(NR5A1):c.428G>C (p.Ser143Thr) rs944587497 0.00001
NM_004959.5(NR5A1):c.522C>T (p.Pro174=) rs1225293958 0.00001
NM_004959.5(NR5A1):c.793C>T (p.Leu265=) rs755558587 0.00001
NM_004959.5(NR5A1):c.982G>A (p.Gly328Arg) rs1832340912 0.00001
NC_000009.12:g.(?_124481358)_(124505411_?)del
NC_000009.12:g.(?_124482420)_(124482928_?)del
NM_004959.4(NR5A1):c.[368G>C;386C>T]
NM_004959.5(NR5A1):c.*1400T>C rs10283445
NM_004959.5(NR5A1):c.102G>C (p.Lys34Asn) rs2131289952
NM_004959.5(NR5A1):c.1063G>A (p.Val355Met)
NM_004959.5(NR5A1):c.1065_1138+158del
NM_004959.5(NR5A1):c.1093C>T (p.Arg365Trp)
NM_004959.5(NR5A1):c.1099G>C (p.Glu367Gln)
NM_004959.5(NR5A1):c.1106_1109del (p.Val369fs)
NM_004959.5(NR5A1):c.1138+5G>A rs1832300085
NM_004959.5(NR5A1):c.1139-1G>T rs2131269372
NM_004959.5(NR5A1):c.1139-20C>T
NM_004959.5(NR5A1):c.1205T>C (p.Leu402Pro)
NM_004959.5(NR5A1):c.1221C>A (p.Cys407Ter)
NM_004959.5(NR5A1):c.1227C>G (p.Tyr409Ter) rs1564146922
NM_004959.5(NR5A1):c.1285C>T (p.Leu429=)
NM_004959.5(NR5A1):c.129CAA[1] (p.Asn44del) rs1832494273
NM_004959.5(NR5A1):c.1307A>G (p.Tyr436Cys) rs1832149850
NM_004959.5(NR5A1):c.1308C>G (p.Tyr436Ter) rs2131269186
NM_004959.5(NR5A1):c.1362A>G (p.Glu454=) rs2131269144
NM_004959.5(NR5A1):c.1379A>C (p.Gln460Pro)
NM_004959.5(NR5A1):c.185G>C (p.Arg62Pro) rs1832493571
NM_004959.5(NR5A1):c.205C>G (p.Arg69Gly)
NM_004959.5(NR5A1):c.219C>G (p.Cys73Trp) rs1832493257
NM_004959.5(NR5A1):c.228G>A (p.Val76=) rs2131289706
NM_004959.5(NR5A1):c.231del (p.Met78fs) rs2131289701
NM_004959.5(NR5A1):c.232_244del (p.Met78fs) rs2131289687
NM_004959.5(NR5A1):c.236G>C (p.Arg79Pro)
NM_004959.5(NR5A1):c.236_238del (p.Arg79del) rs1554721859
NM_004959.5(NR5A1):c.241G>A (p.Glu81Lys)
NM_004959.5(NR5A1):c.244G>A (p.Ala82Thr)
NM_004959.5(NR5A1):c.244G>T (p.Ala82Ser)
NM_004959.5(NR5A1):c.245-2A>G
NM_004959.5(NR5A1):c.251G>A (p.Arg84His) rs375469069
NM_004959.5(NR5A1):c.259C>T (p.Arg87Cys) rs866712684
NM_004959.5(NR5A1):c.269G>C (p.Gly90Ala)
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004959.5(NR5A1):c.334C>T (p.Gln112Ter) rs1832456567
NM_004959.5(NR5A1):c.33G>A (p.Glu11=)
NM_004959.5(NR5A1):c.352T>A (p.Phe118Ile)
NM_004959.5(NR5A1):c.398del (p.Pro133fs) rs1588622082
NM_004959.5(NR5A1):c.437_438delinsCA (p.Gly146Ala)
NM_004959.5(NR5A1):c.523G>A (p.Gly175Ser)
NM_004959.5(NR5A1):c.572del (p.Arg191fs) rs2131286914
NM_004959.5(NR5A1):c.591C>G (p.Tyr197Ter)
NM_004959.5(NR5A1):c.593C>T (p.Pro198Leu)
NM_004959.5(NR5A1):c.598C>A (p.Pro200Thr)
NM_004959.5(NR5A1):c.601del (p.Tyr201fs)
NM_004959.5(NR5A1):c.630G>A (p.Pro210=)
NM_004959.5(NR5A1):c.64G>A (p.Gly22Ser)
NM_004959.5(NR5A1):c.68A>G (p.Tyr23Cys) rs2131289985
NM_004959.5(NR5A1):c.705G>A (p.Pro235=)
NM_004959.5(NR5A1):c.721C>T (p.Arg241Trp) rs1832445795
NM_004959.5(NR5A1):c.727C>T (p.Arg243Cys)
NM_004959.5(NR5A1):c.754A>G (p.Thr252Ala)
NM_004959.5(NR5A1):c.75C>G (p.Tyr25Ter) rs2131289982
NM_004959.5(NR5A1):c.776C>T (p.Pro259Leu)
NM_004959.5(NR5A1):c.780G>A (p.Ala260=)
NM_004959.5(NR5A1):c.800G>A (p.Arg267Lys)
NM_004959.5(NR5A1):c.86C>T (p.Thr29Met) rs2131289973
NM_004959.5(NR5A1):c.870+1G>A
NM_004959.5(NR5A1):c.871-17G>A
NM_004959.5(NR5A1):c.871-20C>T rs2297605
NM_004959.5(NR5A1):c.871-4_871-1del
NM_004959.5(NR5A1):c.88T>C (p.Cys30Arg) rs1564153753
NM_004959.5(NR5A1):c.895C>T (p.Gln299Ter) rs1564150329
NM_004959.5(NR5A1):c.895_897del (p.Gln299del) rs2131279929
NM_004959.5(NR5A1):c.924C>T (p.Phe308=)
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.942G>C (p.Gln314His) rs201103618
NM_004959.5(NR5A1):c.981C>A (p.Thr327=)
NM_004959.5(NR5A1):c.984del (p.Gln329fs) rs2131279850
NM_004959.5(NR5A1):c.991-17G>A
NM_004959.5(NR5A1):c.991-18C>A
NM_004959.5(NR5A1):c.991-18C>T

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.