ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4J by Illumina Laboratory Services, Illumina

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_014845.6(FIG4):c.*120C>T rs1127775 0.35612
NM_014845.6(FIG4):c.2559G>A (p.Ser853=) rs1127771 0.34581
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_014845.6(FIG4):c.*29G>A rs10659 0.08648
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_014845.6(FIG4):c.67-7T>C rs56378532 0.04073
NM_014845.6(FIG4):c.-120C>T rs75045314 0.02248
NM_014845.6(FIG4):c.-121G>A rs75509752 0.02164
NM_014845.5(FIG4):c.-182G>A rs55873083 0.01220
NM_014845.6(FIG4):c.*7C>T rs113946190 0.01145
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) rs61729087 0.00891
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.27C>T (p.Ile9=) rs141040807 0.00398
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys) rs145337669 0.00275
NM_014845.6(FIG4):c.-132A>G rs548471516 0.00150
NM_014845.6(FIG4):c.446+9G>A rs190287033 0.00128
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_014845.6(FIG4):c.1584-8T>A rs199522051 0.00086
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_014845.6(FIG4):c.-138T>C rs550585093 0.00016
NM_014845.6(FIG4):c.-84A>G rs764845399 0.00016
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys) rs540674198 0.00013
NM_014845.6(FIG4):c.1271+5A>G rs374583399 0.00012
NM_014845.6(FIG4):c.1863C>A (p.Thr621=) rs201744761 0.00011
NM_014845.6(FIG4):c.350C>T (p.Ala117Val) rs551339249 0.00009
NM_014845.6(FIG4):c.-112G>A rs757848529 0.00008
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327 0.00008
NM_014845.6(FIG4):c.2096G>A (p.Arg699His) rs750091928 0.00007
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937 0.00006
NM_014845.6(FIG4):c.109C>T (p.Arg37Cys) rs368625871 0.00005
NM_014845.6(FIG4):c.2096+3A>G rs374223402 0.00005
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys) rs372846619 0.00005
NM_014845.6(FIG4):c.33G>C (p.Ser11=) rs527523781 0.00004
NM_014845.5(FIG4):c.-152C>A rs1408966015 0.00003
NM_014845.6(FIG4):c.243A>G (p.Lys81=) rs200257799 0.00003
NM_014845.6(FIG4):c.2547-11A>G rs745613994 0.00003
NM_014845.6(FIG4):c.2567C>T (p.Ser856Leu) rs200970494 0.00003
NM_014845.6(FIG4):c.1482C>T (p.Asn494=) rs776928002 0.00002
NM_014845.6(FIG4):c.2547-4A>G rs886060985 0.00002
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr) rs764958115 0.00002
NM_014845.6(FIG4):c.-124A>G rs544958043 0.00001
NM_014845.6(FIG4):c.-134C>G rs560811735 0.00001
NM_014845.6(FIG4):c.1793T>A (p.Phe598Tyr) rs751399063 0.00001
NM_014845.6(FIG4):c.2222C>T (p.Thr741Met) rs1274229885 0.00001
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu) rs201375273 0.00001
NM_014845.6(FIG4):c.1272-10C>G rs201293291
NM_014845.6(FIG4):c.1889+9C>T rs1777643262
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2223G>T (p.Thr741=) rs181012139
NM_014845.6(FIG4):c.235G>A (p.Gly79Arg) rs886060982
NM_014845.6(FIG4):c.2460A>C (p.Arg820Ser) rs886060984
NM_014845.6(FIG4):c.2546+5G>C rs1060501401
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014845.6(FIG4):c.2568G>T (p.Ser856=) rs140055056
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg) rs529048339

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