ClinVar Miner

List of variants studied for Congenital bilateral aplasia of vas deferens from CFTR mutation by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1210-11T>G	rs73715573	0.00886
NM_000492.4(CFTR):c.3469-17T>C	rs199630678	0.00041
NM_000492.4(CFTR):c.1586A>C (p.Asp529Ala)
NM_000492.4(CFTR):c.4262T>A (p.Val1421Glu)
NM_000492.4(CFTR):c.592G>C (p.Ala198Pro)	rs193922529

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