ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP
NM_144997.7(FLCN):c.*1035T>C
NM_144997.7(FLCN):c.*1101C>G
NM_144997.7(FLCN):c.*1179T>A rs540609895
NM_144997.7(FLCN):c.*1179dup rs397932764
NM_144997.7(FLCN):c.*1273C>T rs886052654
NM_144997.7(FLCN):c.*140C>T
NM_144997.7(FLCN):c.*178A>C
NM_144997.7(FLCN):c.*224G>A rs541003301
NM_144997.7(FLCN):c.*290C>T rs886052660
NM_144997.7(FLCN):c.*29G>A
NM_144997.7(FLCN):c.*333C>T rs750896108
NM_144997.7(FLCN):c.*339C>T
NM_144997.7(FLCN):c.*340G>A rs886052659
NM_144997.7(FLCN):c.*634A>C rs199572622
NM_144997.7(FLCN):c.*695C>T rs775700421
NM_144997.7(FLCN):c.*695_*696del rs886052658
NM_144997.7(FLCN):c.*739C>T rs558952732
NM_144997.7(FLCN):c.*846C>T
NM_144997.7(FLCN):c.*887T>C rs886052657
NM_144997.7(FLCN):c.*915G>T
NM_144997.7(FLCN):c.*967T>C rs886052656
NM_144997.7(FLCN):c.-143C>A rs560968516
NM_144997.7(FLCN):c.-173G>A
NM_144997.7(FLCN):c.-17dup rs886052662
NM_144997.7(FLCN):c.-342G>A
NM_144997.7(FLCN):c.-431C>T rs138847774
NM_144997.7(FLCN):c.-437C>T rs886052663
NM_144997.7(FLCN):c.-45A>G rs571154058
NM_144997.7(FLCN):c.-65A>G
NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys) rs557336321
NM_144997.7(FLCN):c.10A>G (p.Ile4Val) rs1555611575
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln) rs748878853
NM_144997.7(FLCN):c.1463C>T (p.Ala488Val) rs200660337
NM_144997.7(FLCN):c.1482C>T (p.Asn494=)
NM_144997.7(FLCN):c.250-7T>C rs748857550
NM_144997.7(FLCN):c.536G>A (p.Arg179Gln) rs369906553
NM_144997.7(FLCN):c.552C>A (p.Asn184Lys) rs143525924
NM_144997.7(FLCN):c.598C>T (p.Leu200Phe)
NM_144997.7(FLCN):c.617A>G (p.Lys206Arg) rs886052661
NM_144997.7(FLCN):c.791C>T (p.Ala264Val) rs372304384
NM_144997.7(FLCN):c.798C>T (p.Gly266=)
NM_144997.7(FLCN):c.82C>T (p.Pro28Ser) rs749758787

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