ClinVar Miner

List of variants in gene FIG4 reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.2097-243A>C rs9386845 0.84807
NM_014845.6(FIG4):c.1434+238T>C rs6912209 0.80995
NM_014845.6(FIG4):c.289+331G>A rs7771150 0.80802
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_014845.6(FIG4):c.1949-308G>A rs9386844 0.49237
NM_014845.6(FIG4):c.2180+63G>T rs9384723 0.47367
NM_014845.6(FIG4):c.447-564T>C rs6568602 0.46411
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.876+126T>G rs1322124 0.33319
NM_014845.6(FIG4):c.775+298G>A rs12201444 0.33071
NM_014845.6(FIG4):c.647-18C>A rs2273752 0.33064
NM_014845.6(FIG4):c.447-119T>G rs11153215 0.33044
NM_014845.6(FIG4):c.1272-238C>T rs7756284 0.30924
NM_014845.6(FIG4):c.1584-317T>C rs17612996 0.30919
NM_014845.6(FIG4):c.165+100A>T rs6924436 0.30601
NM_014845.6(FIG4):c.1948+46C>A rs9320315 0.23093
NM_014845.6(FIG4):c.1434+181G>T rs13196280 0.22195
NM_014845.6(FIG4):c.1271+32G>A rs9481003 0.16771
NM_014845.6(FIG4):c.1040-98T>G rs2295836 0.10591
NM_014845.6(FIG4):c.1584-84T>A rs9386842 0.10591
NM_014845.6(FIG4):c.1584-315G>A rs13437149 0.10589
NM_014845.6(FIG4):c.1434+72A>G rs9372226 0.10572
NM_014845.6(FIG4):c.67-165T>C rs7742066 0.08878
NM_014845.6(FIG4):c.2460-127C>T rs7744512 0.08821
NM_014845.6(FIG4):c.*29G>A rs10659 0.08648
NM_014845.6(FIG4):c.2460-252A>G rs72944977 0.06797
NM_014845.6(FIG4):c.1890-101G>T rs9487217 0.06791
NM_014845.6(FIG4):c.2377-19T>C rs72944974 0.05800
NM_014845.6(FIG4):c.1138-175G>T rs80101079 0.04763
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.2377-20_2377-19insC rs201752617 0.03507
NM_014845.6(FIG4):c.1751-334T>A rs111505237 0.02829
NM_014845.6(FIG4):c.497+227T>A rs75592319 0.02557
NM_014845.6(FIG4):c.1435-256T>C rs75356913 0.02327
NM_014845.6(FIG4):c.776-96G>T rs17070915 0.02324
NM_014845.6(FIG4):c.-120C>T rs75045314 0.02248
NM_014845.6(FIG4):c.289+151A>G rs114545793 0.02247
NM_014845.6(FIG4):c.497+246T>C rs75723400 0.02192
NM_014845.6(FIG4):c.-121G>A rs75509752 0.02164
NM_014845.6(FIG4):c.2460-38C>T rs11963787 0.01718
NM_014845.6(FIG4):c.1949-121G>A rs56981194 0.01709
NM_014845.6(FIG4):c.1948+56T>C rs11961813 0.01707
NM_014845.6(FIG4):c.2459+22A>G rs192209196 0.01394
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.447-16G>T rs200890189 0.00618
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.446+9G>A rs190287033 0.00128
NM_014845.6(FIG4):c.627A>G (p.Leu209=) rs140111406 0.00119
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.658A>G (p.Ile220Val) rs565096937 0.00006
GRCh37/hg19 6q21(chr6:110050042-110117170)x3
NM_014845.6(FIG4):c.1137+111G>A rs9374117
NM_014845.6(FIG4):c.1137+77_1137+79del rs149608939
NM_014845.6(FIG4):c.1435-117TTTTTG[5] rs71018366
NM_014845.6(FIG4):c.1435-117TTTTTG[8] rs71018366
NM_014845.6(FIG4):c.1583+16dup rs769229381
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2376+9dup
NM_014845.6(FIG4):c.2377-10del rs200535694
NM_014845.6(FIG4):c.2377-11_2377-10del rs200535694
NM_014845.6(FIG4):c.2377-12_2377-10del
NM_014845.6(FIG4):c.2459+90_2459+91del rs34998755
NM_014845.6(FIG4):c.2459+91del rs34998755
NM_014845.6(FIG4):c.289+18del
NM_014845.6(FIG4):c.289+18dup
NM_014845.6(FIG4):c.290-147C>T rs6921615
NM_014845.6(FIG4):c.446+32dup rs11459279
NM_014845.6(FIG4):c.447-17dup rs764540259
NM_014845.6(FIG4):c.447-3del rs11377100
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.447-4_447-3dup rs11377100
NM_014845.6(FIG4):c.447-5_447-3dup
NM_014845.6(FIG4):c.497+7G>A rs140111950
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg) rs529048339
NM_014845.6(FIG4):c.647-10del
NM_014845.6(FIG4):c.647-4del
NM_014845.6(FIG4):c.775+20del
NM_014845.6(FIG4):c.877-54_877-50del rs57291908

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