ClinVar Miner

Variants in gene FLCN with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 40
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HGVS dbSNP gnomAD frequency
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_144997.7(FLCN):c.871+16T>A rs116643153 0.00146
NM_144997.7(FLCN):c.959G>A (p.Arg320Gln) rs143483053 0.00071
NM_144997.7(FLCN):c.871+47G>A rs142934950 0.00058
NM_144997.7(FLCN):c.1155G>T (p.Gln385His) rs141250189 0.00038
NM_144997.7(FLCN):c.1201C>T (p.Arg401Cys) rs143183215 0.00037
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser) rs141140415 0.00029
NM_144997.7(FLCN):c.931C>T (p.Pro311Ser) rs140246224 0.00029
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.396+4A>G rs370353839 0.00020
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn) rs200168437 0.00019
NM_144997.7(FLCN):c.-431C>T rs138847774 0.00018
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg) rs199643834 0.00018
NM_144997.7(FLCN):c.580C>T (p.Arg194Trp) rs138070947 0.00017
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile) rs139418842 0.00016
NM_144997.7(FLCN):c.1463C>T (p.Ala488Val) rs200660337 0.00014
NM_144997.7(FLCN):c.977C>T (p.Pro326Leu) rs138031155 0.00012
NM_144997.7(FLCN):c.552C>A (p.Asn184Lys) rs143525924 0.00007
NM_144997.7(FLCN):c.1274A>G (p.Gln425Arg) rs786203348 0.00006
NM_144997.7(FLCN):c.444C>T (p.His148=) rs376825814 0.00006
NM_144997.7(FLCN):c.1265C>T (p.Pro422Leu) rs565447853 0.00005
NM_144997.7(FLCN):c.1387T>C (p.Tyr463His) rs770077517 0.00005
NM_144997.7(FLCN):c.1418T>C (p.Val473Ala) rs144883828 0.00004
NM_144997.7(FLCN):c.586A>G (p.Ile196Val) rs201078144 0.00003
NM_144997.7(FLCN):c.779+5C>T rs745645385 0.00003
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln) rs190786280 0.00002
NM_144997.7(FLCN):c.249+4A>G rs753648691 0.00002
NM_144997.7(FLCN):c.1022G>A (p.Arg341Gln) rs375352888 0.00001
NM_144997.7(FLCN):c.1160C>T (p.Ala387Val) rs1431737113 0.00001
NM_144997.7(FLCN):c.1312A>T (p.Ile438Phe) rs759743111 0.00001
NM_144997.7(FLCN):c.1415C>T (p.Pro472Leu) rs1180118315 0.00001
NM_144997.7(FLCN):c.257G>A (p.Arg86Gln) rs765550303 0.00001
NM_144997.7(FLCN):c.1198G>T (p.Val400Phe) rs148257120
NM_144997.7(FLCN):c.1451A>G (p.Asn484Ser) rs1010980331
NM_144997.7(FLCN):c.1482C>T (p.Asn494=) rs1597578831
NM_144997.7(FLCN):c.250-7T>C rs748857550
NM_144997.7(FLCN):c.779+6G>A rs778530618
NM_144997.7(FLCN):c.871+22C>T

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