ClinVar Miner

List of variants in gene combination CFTR, LOC111674477 reported as uncertain significance by Quest Diagnostics Nichols Institute San Juan Capistrano

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Total variants: 7
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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.4396G>T (p.Ala1466Ser) rs199827645 0.00002
NM_000492.4(CFTR):c.4243-7del rs878854021
NM_000492.4(CFTR):c.4439T>C (p.Leu1480Pro) rs758818611

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