ClinVar Miner

List of variants studied for Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421

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