ClinVar Miner

List of variants in gene combination CFTR, LOC111674463 reported as uncertain significance by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.-226G>T rs73717525 0.00422
NM_000492.4(CFTR):c.-812T>G rs181008242 0.00375
NM_000492.3(CFTR):c.-448A>G rs943663200 0.00041
NM_000492.3(CFTR):c.-828C>T rs1030962741 0.00018
NM_000492.3(CFTR):c.-165G>A rs145483167 0.00010
NM_000492.3(CFTR):c.-256G>A rs1035377381 0.00003
NM_000492.3(CFTR):c.-116C>T
NM_000492.3(CFTR):c.-511G>C rs2116603126

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