ClinVar Miner

List of variants in gene CFTR reported by Unidad de Estudios Geneticos y Forenses,Instituto Venezolano de Investigaciones Cientificas

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Gene type:
ClinVar version:
Total variants: 6
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NM_000492.3(CFTR):c.1117G>A (p.Asp373Asn) rs556880586
NM_000492.3(CFTR):c.2443G>T (p.Glu815Ter) rs672601316
NM_000492.3(CFTR):c.2700T>A (p.Asn900Lys) rs672601315
NM_000492.3(CFTR):c.3963+1G>A rs672601314
NM_000492.3(CFTR):c.49_50dup (p.Trp19fs) rs397508714
NM_000492.3(CFTR):c.830G>A (p.Trp277Ter) rs672601317

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