ClinVar Miner

List of variants in gene FLCN reported as pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs) rs879255677 0.00001
NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs) rs753009073 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
NM_144997.7(FLCN):c.1015C>T (p.Gln339Ter) rs2144894376
NM_144997.7(FLCN):c.1150_1160del (p.Val384fs) rs2544172290
NM_144997.7(FLCN):c.1177-2A>G rs1057520528
NM_144997.7(FLCN):c.1227C>G (p.Tyr409Ter) rs561236067
NM_144997.7(FLCN):c.1252del (p.Leu418fs) rs864622651
NM_144997.7(FLCN):c.127G>T (p.Glu43Ter) rs1555611494
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1286_1287dup (p.Val430fs) rs1555607640
NM_144997.7(FLCN):c.1305del (p.Phe435fs) rs398124527
NM_144997.7(FLCN):c.1367_1398del (p.Asp456fs) rs2544145738
NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter) rs137852929
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.1489dup (p.Val497fs)
NM_144997.7(FLCN):c.199del (p.Ala67fs) rs1555611438
NM_144997.7(FLCN):c.250-2A>G rs398124533
NM_144997.7(FLCN):c.296del (p.Asp99fs) rs398124534
NM_144997.7(FLCN):c.326_338del (p.His109fs)
NM_144997.7(FLCN):c.33C>A (p.Cys11Ter) rs754616167
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218
NM_144997.7(FLCN):c.610_611delinsTA (p.Ala204Ter) rs398124538
NM_144997.7(FLCN):c.874_886del (p.Leu292fs)
NM_144997.7(FLCN):c.890_893del (p.Glu297fs) rs398124541
NM_144997.7(FLCN):c.927_954dup (p.Gly319fs) rs398124542
NM_144997.7(FLCN):c.933del (p.Val312fs) rs1555608611

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