ClinVar Miner

List of variants in gene combination CFAP47, CXorf30 reported as pathogenic for spermatogenic failure

Included ClinVar conditions (115):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001304548.2(CFAP47):c.8668C>A (p.Pro2890Thr) rs1317932026 0.00001
NM_001304548.2(CFAP47):c.7154T>A (p.Ile2385Asn) rs1940460729

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