ClinVar Miner

List of variants studied for spermatogenic failure 33 by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_144668.6(CFAP251):c.331G>T (p.Glu111Ter) rs199671406 0.00098
NM_144668.6(CFAP251):c.1191+4A>G rs373303946 0.00038
NM_144668.6(CFAP251):c.186_187insAGGAGGAGGAGGAGAAA (p.Glu63fs)
NM_144668.6(CFAP251):c.196_197insAGAAAGGAGGAGG (p.Gly66fs)
NM_144668.6(CFAP251):c.385C>T (p.Gln129Ter)

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