ClinVar Miner

List of variants in gene CFAP58 studied for spermatogenic failure

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001008723.2(CFAP58):c.2092C>T (p.Arg698Ter) rs369701921 0.00016
NM_001008723.2(CFAP58):c.1360C>T (p.Gln454Ter)
NM_001008723.2(CFAP58):c.1429del (p.Lys476_Ile477insTer) rs761844995
NM_001008723.2(CFAP58):c.1696C>T (p.Gln566Ter) rs544826621
NM_001008723.2(CFAP58):c.2052del (p.His685fs) rs775625613
NM_001008723.2(CFAP58):c.2274C>A (p.Tyr758Ter) rs2013131818

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