ClinVar Miner

List of variants reported as likely pathogenic for Congenital bilateral absence of the vas deferens

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Total variants: 6
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HGVS dbSNP
NM_000492.3(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.3(CFTR):c.2939T>A (p.Ile980Lys) rs397508463
NM_000492.3(CFTR):c.3139+1delG rs780546355
NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.476T>C (p.Leu159Ser) rs397508727
NM_000492.3(CFTR):c.772A>G (p.Arg258Gly) rs191456345

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