ClinVar Miner

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

Included ClinVar conditions (116):
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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_004959.5(NR5A1):c.368G>C (p.Gly123Ala) rs200163795 0.00098
NM_004959.5(NR5A1):c.634G>A (p.Gly212Ser) rs201095702 0.00007
NM_004959.5(NR5A1):c.392C>T (p.Pro131Leu) rs387906690 0.00002
NC_000009.12:g.(?_124481358)_(124505411_?)del
NM_004959.4(NR5A1):c.[368G>C;386C>T]
NM_004959.5(NR5A1):c.1065_1138+158del
NM_004959.5(NR5A1):c.1106_1109del (p.Val369fs)
NM_004959.5(NR5A1):c.1221C>A (p.Cys407Ter)
NM_004959.5(NR5A1):c.129CAA[1] (p.Asn44del) rs1832494273
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.245-2A>G
NM_004959.5(NR5A1):c.259C>T (p.Arg87Cys) rs866712684
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.398del (p.Pro133fs) rs1588622082
NM_004959.5(NR5A1):c.572del (p.Arg191fs) rs2131286914
NM_004959.5(NR5A1):c.591C>G (p.Tyr197Ter)
NM_004959.5(NR5A1):c.601del (p.Tyr201fs)
NM_004959.5(NR5A1):c.75C>G (p.Tyr25Ter) rs2131289982
NM_004959.5(NR5A1):c.86C>T (p.Thr29Met) rs2131289973
NM_004959.5(NR5A1):c.895C>T (p.Gln299Ter) rs1564150329
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.984del (p.Gln329fs) rs2131279850
NM_004959.5(NR5A1):c.991-18C>A

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