ClinVar Miner

List of variants in gene FIG4 reported as likely benign for Charcot-Marie-Tooth disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00462
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala) rs61729092 0.00411
NM_014845.6(FIG4):c.*14C>T rs114136062 0.00408
NM_014845.6(FIG4):c.446+9G>A rs190287033 0.00128
NM_014845.6(FIG4):c.1584-8T>A rs199522051 0.00086
NM_014845.6(FIG4):c.2377-18T>C rs560214203 0.00056
NM_014845.6(FIG4):c.42G>A (p.Lys14=) rs552856153 0.00022
NM_014845.6(FIG4):c.1271+5A>G rs374583399 0.00012
NM_014845.6(FIG4):c.1305G>C (p.Val435=) rs145227623 0.00011
NM_014845.6(FIG4):c.1863C>A (p.Thr621=) rs201744761 0.00011
NM_014845.6(FIG4):c.2459+7T>G rs575271308 0.00009
NM_014845.6(FIG4):c.918C>T (p.Cys306=) rs369159531 0.00008
NM_014845.6(FIG4):c.2154A>G (p.Pro718=) rs201138266 0.00006
NM_014845.6(FIG4):c.1341T>C (p.Phe447=) rs199651811 0.00005
NM_014845.6(FIG4):c.2180+20C>T rs372359387 0.00004
NM_014845.6(FIG4):c.33G>C (p.Ser11=) rs527523781 0.00004
NM_014845.6(FIG4):c.1809G>A (p.Gly603=) rs148280593 0.00002
NM_014845.6(FIG4):c.1949-15C>T rs778444771 0.00002
NM_014845.6(FIG4):c.289+17C>T rs368282150 0.00002
NM_014845.6(FIG4):c.1750+11A>C rs766372971 0.00001
NM_014845.6(FIG4):c.2319T>C (p.Ser773=) rs745397940 0.00001
NM_014845.6(FIG4):c.252G>A (p.Ser84=) rs532895784 0.00001
NM_014845.6(FIG4):c.300G>A (p.Arg100=) rs368831195 0.00001
NM_014845.6(FIG4):c.66+18G>A rs1381893795 0.00001
NM_014845.6(FIG4):c.105A>G (p.Lys35=) rs1775388283
NM_014845.6(FIG4):c.1272-10C>G rs201293291
NM_014845.6(FIG4):c.1272-10C>T rs201293291
NM_014845.6(FIG4):c.1356T>C (p.Asp452=) rs1777130180
NM_014845.6(FIG4):c.1536G>T (p.Leu512=) rs1777242124
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2097-10C>T rs142482745
NM_014845.6(FIG4):c.2241G>A (p.Pro747=) rs148589135
NM_014845.6(FIG4):c.2377-20_2377-19insCT rs557926044
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014845.6(FIG4):c.447-16delinsTT rs1776038653
NM_014845.6(FIG4):c.744G>A (p.Leu248=) rs76125290

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