ClinVar Miner

List of variants in gene FLCN reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
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.1177-21G>A rs150687840 0.00276
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_144997.7(FLCN):c.959G>A (p.Arg320Gln) rs143483053 0.00071
NM_144997.7(FLCN):c.*695C>T rs775700421 0.00058
NM_144997.7(FLCN):c.871+47G>A rs142934950 0.00058
NM_144997.7(FLCN):c.1269C>T (p.His423=) rs41464156 0.00053
NM_144997.7(FLCN):c.1149C>T (p.Leu383=) rs150752548 0.00028
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys) rs78683075 0.00024
NM_144997.7(FLCN):c.246C>T (p.Cys82=) rs150712346 0.00020
NM_144997.7(FLCN):c.-431C>T rs138847774 0.00018
NM_144997.7(FLCN):c.1278C>T (p.Ile426=) rs41459448 0.00016
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.687C>T (p.Phe229=) rs754710935 0.00008
NM_144997.7(FLCN):c.444C>T (p.His148=) rs376825814 0.00006
NM_144997.7(FLCN):c.1300+12C>T rs565983064 0.00004
NM_144997.7(FLCN):c.429C>T (p.Phe143=) rs773792624 0.00003
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del) rs398124529 0.00001
NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu) rs760329266 0.00001
NM_144997.7(FLCN):c.207C>T (p.Val69=) rs759772780 0.00001
NM_144997.7(FLCN):c.42C>T (p.His14=) rs766288960 0.00001
NM_144997.7(FLCN):c.451G>A (p.Val151Met) rs147164515 0.00001
NM_144997.7(FLCN):c.115C>A (p.Pro39Thr) rs1060502375
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1305del (p.Phe435fs) rs398124527
NM_144997.7(FLCN):c.134C>T (p.Ala45Val) rs556510460
NM_144997.7(FLCN):c.259_280del (p.Ser87fs)
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218
NM_144997.7(FLCN):c.563del (p.Phe188fs) rs1597606551
NM_144997.7(FLCN):c.871+129C>T rs201396828

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