ClinVar Miner

List of variants in gene NR5A1 studied for male infertility

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 144
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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.1052C>T (p.Ala351Val) rs759071081 0.00004
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.1079C>T (p.Ala360Val) rs369097872 0.00001
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_000009.11:g.(?_127245037)_(127267690_?)del
NC_000009.11:g.(?_127255289)_(127267690_?)dup
NC_000009.11:g.(?_127262349)_(127267690_?)del
NC_000009.11:g.(?_127262449)_(127265674_?)del
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.1008G>C (p.Val336=)
NM_004959.5(NR5A1):c.102+9C>T
NM_004959.5(NR5A1):c.102G>C (p.Lys34Asn) rs2131289952
NM_004959.5(NR5A1):c.103-3C>A
NM_004959.5(NR5A1):c.105del (p.Phe36fs)
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.1139-30_1139-20del
NM_004959.5(NR5A1):c.1205T>C (p.Leu402Pro)
NM_004959.5(NR5A1):c.1209C>T (p.Asp403=)
NM_004959.5(NR5A1):c.1221C>A (p.Cys407Ter)
NM_004959.5(NR5A1):c.1223_1224dup (p.Tyr409fs)
NM_004959.5(NR5A1):c.1227C>G (p.Tyr409Ter) rs1564146922
NM_004959.5(NR5A1):c.1285C>T (p.Leu429=)
NM_004959.5(NR5A1):c.1293G>T (p.Met431Ile)
NM_004959.5(NR5A1):c.129CAA[1] (p.Asn44del) rs1832494273
NM_004959.5(NR5A1):c.1304_1309del (p.Glu435_Leu437delinsVal)
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.203G>A (p.Cys68Tyr)
NM_004959.5(NR5A1):c.205C>G (p.Arg69Gly)
NM_004959.5(NR5A1):c.205C>T (p.Arg69Cys) rs2131289737
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.244+4del
NM_004959.5(NR5A1):c.244+9C>T
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.247G>A (p.Val83Met)
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.266G>A (p.Arg89Lys)
NM_004959.5(NR5A1):c.269G>C (p.Gly90Ala)
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004959.5(NR5A1):c.275G>C (p.Arg92Pro)
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.377T>A (p.Met126Lys)
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.52_53delinsTT (p.Asp18Phe)
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.608G>T (p.Ser203Ile)
NM_004959.5(NR5A1):c.614C>G (p.Pro205Arg)
NM_004959.5(NR5A1):c.630G>A (p.Pro210=)
NM_004959.5(NR5A1):c.632A>G (p.Tyr211Cys)
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.785_791del (p.Phe262fs)
NM_004959.5(NR5A1):c.786C>G (p.Phe262Leu)
NM_004959.5(NR5A1):c.795del (p.Cys266fs)
NM_004959.5(NR5A1):c.800G>A (p.Arg267Lys)
NM_004959.5(NR5A1):c.808G>A (p.Asp270Asn)
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.871-21_871-20delinsTT
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.908G>A (p.Ser303Asn)
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.945C>A (p.Val315=)
NM_004959.5(NR5A1):c.962G>T (p.Gly321Val)
NM_004959.5(NR5A1):c.981C>A (p.Thr327=)
NM_004959.5(NR5A1):c.984del (p.Gln329fs) rs2131279850
NM_004959.5(NR5A1):c.990+14C>T
NM_004959.5(NR5A1):c.990+20C>T
NM_004959.5(NR5A1):c.991-17G>A
NM_004959.5(NR5A1):c.991-18C>A
NM_004959.5(NR5A1):c.991-18C>T

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