ClinVar Miner

List of variants in gene CFTR reported by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_000492.3(CFTR):c.1392G>T (p.Lys464Asn) rs397508198
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.3444C>A (p.Asn1148Lys) rs397508565
NM_000492.4(CFTR):c.1234_1238delGCAAA rs3034796
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter) rs397508387

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