ClinVar Miner

List of variants in gene FIG4 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP
NM_014845.5(FIG4):c.-182G>A rs55873083
NM_014845.5(FIG4):c.1040-4T>C rs374343214
NM_014845.5(FIG4):c.1051G>C (p.Asp351His) rs879253941
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) rs2295837
NM_014845.5(FIG4):c.1091T>A (p.Met364Lys) rs772677048
NM_014845.5(FIG4):c.1138-175G>T rs80101079
NM_014845.5(FIG4):c.1138-45A>T rs201459736
NM_014845.5(FIG4):c.1158T>C (p.His386=) rs370557879
NM_014845.5(FIG4):c.1207C>T (p.Gln403Ter) rs879253926
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014845.5(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)
NM_014845.5(FIG4):c.1242T>C (p.Ile414=) rs61729087
NM_014845.5(FIG4):c.1272-16T>C rs1554303954
NM_014845.5(FIG4):c.1272-238C>T rs7756284
NM_014845.5(FIG4):c.1305G>C (p.Val435=) rs145227623
NM_014845.5(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.5(FIG4):c.1388+5G>T rs200730266
NM_014845.5(FIG4):c.1434+181G>T rs13196280
NM_014845.5(FIG4):c.1434+238T>C rs6912209
NM_014845.5(FIG4):c.1584-317T>C rs17612996
NM_014845.5(FIG4):c.1584-8T>A rs199522051
NM_014845.5(FIG4):c.165+100A>T rs6924436
NM_014845.5(FIG4):c.1703A>G (p.Lys568Arg) rs1064797016
NM_014845.5(FIG4):c.173A>G (p.Tyr58Cys) rs145337669
NM_014845.5(FIG4):c.1751-3del rs1064794667
NM_014845.5(FIG4):c.1770C>T (p.Ser590=) rs1057524489
NM_014845.5(FIG4):c.1809G>A (p.Gly603=) rs148280593
NM_014845.5(FIG4):c.1812A>G (p.Lys604=) rs1399930708
NM_014845.5(FIG4):c.1863C>A (p.Thr621=) rs201744761
NM_014845.5(FIG4):c.1948+46C>A rs9320315
NM_014845.5(FIG4):c.1949-15C>T rs778444771
NM_014845.5(FIG4):c.1949-308G>A rs9386844
NM_014845.5(FIG4):c.1961T>C (p.Val654Ala) rs9885672
NM_014845.5(FIG4):c.1983G>A (p.Val661=) rs1057524662
NM_014845.5(FIG4):c.2035C>T (p.Arg679Trp) rs188910818
NM_014845.5(FIG4):c.2080A>G (p.Met694Val) rs143531641
NM_014845.5(FIG4):c.2096G>A (p.Arg699His) rs750091928
NM_014845.5(FIG4):c.2097-10C>G rs142482745
NM_014845.5(FIG4):c.2097-243A>C rs9386845
NM_014845.5(FIG4):c.2180+63G>T rs9384723
NM_014845.5(FIG4):c.2199A>G (p.Glu733=) rs537464083
NM_014845.5(FIG4):c.2200G>A (p.Glu734Lys) rs372846619
NM_014845.5(FIG4):c.2212C>T (p.Gln738Ter) rs774799167
NM_014845.5(FIG4):c.2405A>G (p.Tyr802Cys) rs370293982
NM_014845.5(FIG4):c.2459+1G>A rs747768373
NM_014845.5(FIG4):c.2459+7T>G rs575271308
NM_014845.5(FIG4):c.2460-17T>C rs201533992
NM_014845.5(FIG4):c.2460-252A>G rs72944977
NM_014845.5(FIG4):c.2546+17A>C rs1050332219
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_014845.5(FIG4):c.2567C>T (p.Ser856Leu) rs200970494
NM_014845.5(FIG4):c.2639T>A (p.Ile880Asn) rs746915624
NM_014845.5(FIG4):c.263G>A (p.Arg88Gln) rs879254310
NM_014845.5(FIG4):c.27C>T (p.Ile9=) rs141040807
NM_014845.5(FIG4):c.289+331G>A rs7771150
NM_014845.5(FIG4):c.290-147C>T rs6921615
NM_014845.5(FIG4):c.33G>C (p.Ser11=) rs527523781
NM_014845.5(FIG4):c.446+9G>A rs190287033
NM_014845.5(FIG4):c.447-119T>G rs11153215
NM_014845.5(FIG4):c.506A>C (p.Tyr169Ser) rs770278572
NM_014845.5(FIG4):c.547C>T (p.Arg183Ter) rs121908288
NM_014845.5(FIG4):c.66+13dup rs755637236
NM_014845.5(FIG4):c.67-7T>C rs56378532
NM_014845.5(FIG4):c.719G>C (p.Ser240Thr) rs772586786
NM_014845.5(FIG4):c.730C>T (p.Arg244Cys) rs138376077
NM_014845.5(FIG4):c.737G>A (p.Trp246Ter) rs776005417
NM_014845.5(FIG4):c.775+298G>A rs12201444
NM_014845.5(FIG4):c.776-270C>T rs112727135
NM_014845.5(FIG4):c.793C>T (p.Arg265Ter) rs774294963
NM_014845.5(FIG4):c.808A>G (p.Thr270Ala) rs61729092
NM_014845.5(FIG4):c.831_838del (p.Lys278fs) rs786200937
NM_014845.5(FIG4):c.876+126T>G rs1322124
NM_014845.6(FIG4):c.1331del (p.Thr444fs) rs1583697607
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del) rs876661144

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