ClinVar Miner

List of variants in gene combination CFTR, LOC111674477 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.4243-20A>G rs138025486 0.00086
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445 0.00074
NM_000492.4(CFTR):c.*2G>A rs150914702 0.00056
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725 0.00009
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=) rs761669740 0.00006
NM_000492.4(CFTR):c.4322T>C (p.Ile1441Thr) rs766659587 0.00001
NM_000492.4(CFTR):c.4383G>T (p.Lys1461Asn) rs1562929623 0.00001
NM_000492.4(CFTR):c.4436G>A (p.Arg1479Lys) rs1325117166 0.00001
NM_000492.4(CFTR):c.4332C>T (p.Ser1444=) rs779359608
NM_000492.4(CFTR):c.4387C>T (p.Gln1463Ter) rs886044425
NM_000492.4(CFTR):c.4417G>A (p.Glu1473Lys) rs397508716

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