ClinVar Miner

List of variants in gene combination CFTR, LOC111674472 reported as likely pathogenic by Genome-Nilou Lab

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	rs150212784	0.00037
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	rs78769542	0.00030

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