ClinVar Miner

List of variants in gene NR5A1 reported as uncertain significance for spermatogenic failure 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn) rs780568525 0.00006
NM_004959.5(NR5A1):c.400C>T (p.Pro134Ser) rs1012697512 0.00003
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.102G>C (p.Lys34Asn) rs2131289952
NM_004959.5(NR5A1):c.1063G>A (p.Val355Met)
NM_004959.5(NR5A1):c.1093C>T (p.Arg365Trp)
NM_004959.5(NR5A1):c.1099G>C (p.Glu367Gln)
NM_004959.5(NR5A1):c.1138+5G>A rs1832300085
NM_004959.5(NR5A1):c.1139-1G>T rs2131269372
NM_004959.5(NR5A1):c.1205T>C (p.Leu402Pro)
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.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.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.269G>C (p.Gly90Ala)
NM_004959.5(NR5A1):c.523G>A (p.Gly175Ser)
NM_004959.5(NR5A1):c.593C>T (p.Pro198Leu)
NM_004959.5(NR5A1):c.598C>A (p.Pro200Thr)
NM_004959.5(NR5A1):c.64G>A (p.Gly22Ser)
NM_004959.5(NR5A1):c.68A>G (p.Tyr23Cys) rs2131289985
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.776C>T (p.Pro259Leu)
NM_004959.5(NR5A1):c.800G>A (p.Arg267Lys)
NM_004959.5(NR5A1):c.88T>C (p.Cys30Arg) rs1564153753
NM_004959.5(NR5A1):c.895_897del (p.Gln299del) rs2131279929
NM_004959.5(NR5A1):c.942G>C (p.Gln314His) rs201103618

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