ClinVar Miner

List of variants in gene CFTR reported by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1758A>T (p.Ile586=) rs1462572352
NM_000492.3(CFTR):c.2620-6T>C rs371315682
NM_000492.3(CFTR):c.2770G>C (p.Asp924His)
NM_000492.3(CFTR):c.360G>A (p.Ala120=) rs1800077

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