ClinVar Miner

List of variants reported as benign for Birt-Hogg-Dube syndrome by Illumina Laboratory Services, Illumina

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_144997.6(FLCN):c.-487G>C rs1736209 0.72552
NM_144997.7(FLCN):c.*1403T>C rs7218795 0.72029
NM_144997.7(FLCN):c.*557T>C rs3803761 0.71694
NM_144997.7(FLCN):c.1062+6C>T rs8065832 0.47076
NM_144997.7(FLCN):c.-299C>T rs1708629 0.44880
NM_144997.7(FLCN):c.397-14C>T rs1736219 0.40309
NM_144997.7(FLCN):c.*1336G>T rs7218992 0.12032
NM_144997.7(FLCN):c.*425G>A rs7224335 0.09952
NM_144997.7(FLCN):c.*356G>T rs7224474 0.09138
NM_144997.7(FLCN):c.397-13G>A rs3744123 0.07012
NM_144997.7(FLCN):c.-302G>A rs41345949 0.05963
NM_144997.7(FLCN):c.*914C>T rs7223831 0.04505
NM_144997.7(FLCN):c.-90A>G rs8069957 0.04414
NM_144997.7(FLCN):c.-93C>T rs115413827 0.03572
NM_144997.7(FLCN):c.1233G>A (p.Glu411=) rs61750032 0.03557
NM_144997.7(FLCN):c.*393G>A rs12602675 0.03206
NM_144997.7(FLCN):c.726A>T (p.Thr242=) rs113938514 0.02907
NM_144997.7(FLCN):c.-97C>T rs114481741 0.02691
NM_144997.7(FLCN):c.*956A>G rs141650706 0.02638
NM_144997.7(FLCN):c.*442T>C rs7224213 0.02480
NM_144997.7(FLCN):c.872-13A>G rs114970273 0.01651
NM_144997.7(FLCN):c.-78G>C rs147598893 0.01648
NM_144997.7(FLCN):c.-176G>A rs117215381 0.00772
NM_144997.7(FLCN):c.1538+14T>G rs112111994 0.00721
NM_144997.7(FLCN):c.*911G>A rs571893996 0.00356
NM_144997.7(FLCN):c.-480G>C rs564584154 0.00265
NM_144997.7(FLCN):c.*526T>C rs574547835 0.00235
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_144997.7(FLCN):c.-29G>A rs151144873 0.00213
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser) rs141140415 0.00029
NM_144997.7(FLCN):c.*178A>G rs145430714 0.00026
NM_144997.7(FLCN):c.*379G>A rs117436649 0.00021
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn) rs200168437 0.00019
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg) rs199643834 0.00018
NM_144997.7(FLCN):c.*528G>A rs184006653 0.00017
NM_144997.7(FLCN):c.1332C>T (p.Ala444=) rs141283741 0.00015
NM_144997.7(FLCN):c.1281C>G (p.Pro427=) rs372207262 0.00014
NM_144997.7(FLCN):c.977C>T (p.Pro326Leu) rs138031155 0.00012
NM_144997.7(FLCN):c.1300+14C>T rs200823760 0.00005
NM_144997.7(FLCN):c.249+13G>C rs200103733 0.00005
NM_144997.7(FLCN):c.708C>T (p.Asn236=) rs750394475 0.00005
NM_144997.7(FLCN):c.*4G>A rs770795599 0.00004
NM_144997.7(FLCN):c.1428C>G (p.Asp476Glu) rs756944795 0.00004
NM_144997.7(FLCN):c.1580G>A (p.Arg527Gln) rs777826268 0.00003
NM_144997.7(FLCN):c.-430C>T rs553452028 0.00001
NM_144997.7(FLCN):c.*1182dup rs199535675
NM_144997.7(FLCN):c.-134C>T rs116581458
NM_144997.7(FLCN):c.75G>A (p.Leu25=) rs200350612

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