ClinVar Miner

List of variants in gene CFTR reported as likely pathogenic by Invitae

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_000492.3(CFTR):c.1315C>T (p.Pro439Ser) rs397508187
NM_000492.3(CFTR):c.1519A>T (p.Ile507Phe) rs1801178
NM_000492.3(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.3(CFTR):c.2908+1G>A rs1060503164
NM_000492.3(CFTR):c.2909_2924dup rs1263488842

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