ClinVar Miner

Variants with conflicting interpretations "pathogenic" from CFTR-France and "likely pathogenic" from Invitae

Minimum review status of the submission from CFTR-France: Collection method of the submission from CFTR-France:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP
NM_000492.3(CFTR):c.2813T>G (p.Val938Gly) rs193922511
NM_000492.3(CFTR):c.2908+1G>A rs1060503164
NM_000492.3(CFTR):c.296C>T (p.Pro99Leu) rs397508467
NM_000492.3(CFTR):c.869+5G>A rs533959068
NM_000492.4(CFTR):c.1367T>C rs193922500
NM_000492.4(CFTR):c.1766+3A>G rs397508298
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783

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