ClinVar Miner

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

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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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.462C>T (p.Ala154=) rs776212991 0.00013
NM_004959.5(NR5A1):c.942G>A (p.Gln314=) rs201103618 0.00008
NM_004959.5(NR5A1):c.777G>A (p.Pro259=) rs529716231 0.00003
NM_004959.5(NR5A1):c.*1400T>C rs10283445
NM_004959.5(NR5A1):c.1285C>T (p.Leu429=)
NM_004959.5(NR5A1):c.33G>A (p.Glu11=)
NM_004959.5(NR5A1):c.871-20C>T rs2297605
NM_004959.5(NR5A1):c.924C>T (p.Phe308=)
NM_004959.5(NR5A1):c.991-18C>T

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