ClinVar Miner

List of variants in gene FIG4 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
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.647-18C>A rs2273752 0.33064
NM_014845.6(FIG4):c.1271+32G>A rs9481003 0.16771
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.447-16G>T rs200890189 0.00618
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.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.737G>A (p.Trp246Ter) rs776005417 0.00022
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.1141C>T (p.Arg381Ter) rs377357931 0.00009
NM_014845.6(FIG4):c.2459+7T>G rs575271308 0.00009
NM_014845.6(FIG4):c.717A>G (p.Lys239=) rs750904354 0.00009
NM_014845.6(FIG4):c.101C>T (p.Thr34Met) rs375691683 0.00008
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937 0.00006
NM_014845.6(FIG4):c.1435-8C>T rs754607430 0.00005
NM_014845.6(FIG4):c.584A>T (p.Gln195Leu) rs749696803 0.00005
NM_014845.6(FIG4):c.1405G>A (p.Gly469Arg) rs201742496 0.00004
NM_014845.6(FIG4):c.2080A>G (p.Met694Val) rs143531641 0.00004
NM_014845.6(FIG4):c.2095C>T (p.Arg699Cys) rs764799053 0.00004
NM_014845.6(FIG4):c.33G>C (p.Ser11=) rs527523781 0.00004
NM_014845.6(FIG4):c.2232C>T (p.Ser744=) rs760578430 0.00003
NM_014845.6(FIG4):c.2459+1G>A rs747768373 0.00003
NM_014845.6(FIG4):c.351G>A (p.Ala117=) rs375963892 0.00003
NM_014845.6(FIG4):c.107A>G (p.Tyr36Cys) rs760770423 0.00002
NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys) rs747284213 0.00002
NM_014845.6(FIG4):c.2113A>G (p.Thr705Ala) rs766031746 0.00002
NM_014845.6(FIG4):c.2661dup (p.Gln888fs) rs778839285 0.00002
NM_014845.6(FIG4):c.497+9G>A rs759409330 0.00002
NM_014845.6(FIG4):c.877-2A>C rs143956557 0.00002
NM_014845.6(FIG4):c.1525C>T (p.Leu509=) rs146488614 0.00001
NM_014845.6(FIG4):c.1827G>A (p.Glu609=) rs756085095 0.00001
NM_014845.6(FIG4):c.2116G>A (p.Val706Ile) rs754830354 0.00001
NM_014845.6(FIG4):c.2403A>G (p.Leu801=) rs1048137431 0.00001
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser) rs375414729 0.00001
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter) rs121908288 0.00001
NM_014845.6(FIG4):c.719G>C (p.Ser240Thr) rs772586786 0.00001
NM_014845.6(FIG4):c.1504A>G (p.Lys502Glu)
NM_014845.6(FIG4):c.164G>A (p.Arg55Lys)
NM_014845.6(FIG4):c.166-5C>T
NM_014845.6(FIG4):c.1833A>G (p.Pro611=)
NM_014845.6(FIG4):c.1999T>C (p.Tyr667His) rs1777955968
NM_014845.6(FIG4):c.2029T>C (p.Phe677Leu)
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2316_2317del (p.Gln774fs)
NM_014845.6(FIG4):c.2376+5G>C rs528952794
NM_014845.6(FIG4):c.2377-11_2377-10del rs200535694
NM_014845.6(FIG4):c.2547-3T>C
NM_014845.6(FIG4):c.2568G>T (p.Ser856=) rs140055056
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser) rs571563767
NM_014845.6(FIG4):c.449A>G (p.Tyr150Cys) rs1233666827
NM_014845.6(FIG4):c.497+7G>A rs140111950
NM_014845.6(FIG4):c.506A>G (p.Tyr169Cys)
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg) rs529048339

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