ClinVar Miner

List of variants in gene combination CFTR, LOC111674472 reported as benign

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.3140-92T>C rs4148717 0.12640
NM_000492.4(CFTR):c.3139+42A>T rs28517401 0.03591
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_000492.4(CFTR):c.3367+37G>A rs137854873 0.00226
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000492.4(CFTR):c.3139+18C>T rs147945812 0.00126
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_000492.4(CFTR):c.2989-81del rs4148715
NM_000492.4(CFTR):c.3367+196C>T rs28449716
NM_000492.4(CFTR):c.3367+214_3367+259del rs149975806

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