ClinVar Miner

List of variants in gene NR5A1 reported as likely benign for spermatogenic failure

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
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.87G>A (p.Thr29=) rs750190008 0.00004
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.1139-20C>T
NM_004959.5(NR5A1):c.1362A>G (p.Glu454=) rs2131269144
NM_004959.5(NR5A1):c.228G>A (p.Val76=) rs2131289706
NM_004959.5(NR5A1):c.437_438delinsCA (p.Gly146Ala)
NM_004959.5(NR5A1):c.630G>A (p.Pro210=)
NM_004959.5(NR5A1):c.705G>A (p.Pro235=)
NM_004959.5(NR5A1):c.780G>A (p.Ala260=)
NM_004959.5(NR5A1):c.871-17G>A
NM_004959.5(NR5A1):c.981C>A (p.Thr327=)
NM_004959.5(NR5A1):c.991-17G>A

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