ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "pathogenic" from CFTR-France

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP
NM_000492.3(CFTR):c.2173G>A (p.Glu725Lys) rs199791061
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs1800103
NM_000492.3(CFTR):c.2797A>G (p.Arg933Gly) rs397508436
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.332C>T (p.Pro111Leu) rs140502196
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4129G>C (p.Asp1377His) rs150683293
NM_000492.3(CFTR):c.581G>T (p.Gly194Val) rs397508763
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.4(CFTR):c.489+3A>G rs377729736
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079

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