ClinVar Miner

List of variants in gene FIG4 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.2459+5G>A rs367944508 0.00038
NM_014845.6(FIG4):c.730C>T (p.Arg244Cys) rs138376077 0.00031
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_014845.6(FIG4):c.2460-8A>G rs201965891 0.00022
NM_014845.6(FIG4):c.1348C>T (p.Arg450Cys) rs201072058 0.00014
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys) rs540674198 0.00013
NM_014845.6(FIG4):c.350C>T (p.Ala117Val) rs551339249 0.00009
NM_014845.6(FIG4):c.101C>T (p.Thr34Met) rs375691683 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.2154A>G (p.Pro718=) rs201138266 0.00006
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys) rs372846619 0.00005
NM_014845.6(FIG4):c.1091T>A (p.Met364Lys) rs772677048 0.00004
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.14C>T (p.Ala5Val) rs915749340 0.00003
NM_014845.6(FIG4):c.2035C>T (p.Arg679Trp) rs188910818 0.00003
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn) rs377017892 0.00003
NM_014845.6(FIG4):c.2567C>T (p.Ser856Leu) rs200970494 0.00003
NM_014845.6(FIG4):c.2113A>G (p.Thr705Ala) rs766031746 0.00002
NM_014845.6(FIG4):c.2405A>G (p.Tyr802Cys) rs370293982 0.00002
NM_014845.6(FIG4):c.2449A>G (p.Ile817Val) rs781056036 0.00002
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr) rs764958115 0.00002
NM_014845.6(FIG4):c.1051G>C (p.Asp351His) rs879253941 0.00001
NM_014845.6(FIG4):c.1069G>A (p.Ala357Thr) rs376772954 0.00001
NM_014845.6(FIG4):c.1137+5G>T rs746766125 0.00001
NM_014845.6(FIG4):c.1375C>T (p.Arg459Trp) rs1220742669 0.00001
NM_014845.6(FIG4):c.1389-5C>T rs377752443 0.00001
NM_014845.6(FIG4):c.2116G>A (p.Val706Ile) rs754830354 0.00001
NM_014845.6(FIG4):c.2256G>C (p.Glu752Asp) rs375960403 0.00001
NM_014845.6(FIG4):c.2339A>G (p.Lys780Arg) rs373590484 0.00001
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser) rs375414729 0.00001
NM_014845.6(FIG4):c.244G>A (p.Gly82Arg) rs774546266 0.00001
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu) rs201375273 0.00001
NM_014845.6(FIG4):c.2558C>T (p.Ser853Leu) rs774805375 0.00001
NM_014845.6(FIG4):c.2660T>C (p.Met887Thr) rs780643086 0.00001
NM_014845.6(FIG4):c.2695C>T (p.Arg899Ter) rs750069994 0.00001
NM_014845.6(FIG4):c.300G>A (p.Arg100=) rs368831195 0.00001
NM_014845.6(FIG4):c.309A>C (p.Glu103Asp) rs151070087 0.00001
NM_014845.6(FIG4):c.396G>A (p.Met132Ile) rs1775847696 0.00001
NM_014845.6(FIG4):c.548G>A (p.Arg183Gln) rs781588508 0.00001
NM_014845.6(FIG4):c.589C>T (p.Arg197Cys) rs770528195 0.00001
NM_014845.6(FIG4):c.719G>C (p.Ser240Thr) rs772586786 0.00001
NM_014845.6(FIG4):c.776A>C (p.Lys259Thr) rs1045259801 0.00001
NM_014845.6(FIG4):c.788A>G (p.Tyr263Cys) rs370148297 0.00001
NM_014845.6(FIG4):c.80T>C (p.Val27Ala) rs769687105 0.00001
NM_014845.6(FIG4):c.863G>T (p.Gly288Val) rs1057519188 0.00001
GRCh37/hg19 6q21(chr6:110141405-110220627)x1
NM_014845.6(FIG4):c.1137+3A>G rs1776397988
NM_014845.6(FIG4):c.1187C>T (p.Ala396Val) rs758599286
NM_014845.6(FIG4):c.1199A>G (p.Tyr400Cys) rs755232396
NM_014845.6(FIG4):c.1388+5G>T rs200730266
NM_014845.6(FIG4):c.1403G>A (p.Gly468Glu) rs1583699947
NM_014845.6(FIG4):c.1583+3A>G rs866431185
NM_014845.6(FIG4):c.1610A>C (p.His537Pro)
NM_014845.6(FIG4):c.1703A>G (p.Lys568Arg) rs1064797016
NM_014845.6(FIG4):c.1808G>A (p.Gly603Glu) rs754127221
NM_014845.6(FIG4):c.1877C>T (p.Pro626Leu) rs772937400
NM_014845.6(FIG4):c.1948+5G>T rs756884619
NM_014845.6(FIG4):c.1995C>G (p.His665Gln)
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2152C>G (p.Pro718Ala) rs199801181
NM_014845.6(FIG4):c.2155G>T (p.Asp719Tyr) rs2128396850
NM_014845.6(FIG4):c.218G>A (p.Gly73Glu) rs1583643080
NM_014845.6(FIG4):c.2243C>G (p.Pro748Arg) rs2128397260
NM_014845.6(FIG4):c.2329A>C (p.Thr777Pro) rs1778137467
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del) rs876661144
NM_014845.6(FIG4):c.2460A>C (p.Arg820Ser) rs886060984
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014845.6(FIG4):c.263G>A (p.Arg88Gln) rs879254310
NM_014845.6(FIG4):c.295G>T (p.Val99Phe)
NM_014845.6(FIG4):c.401A>G (p.Tyr134Cys) rs571563767
NM_014845.6(FIG4):c.503G>C (p.Ser168Thr)
NM_014845.6(FIG4):c.506A>C (p.Tyr169Ser) rs770278572
NM_014845.6(FIG4):c.57G>A (p.Glu19=) rs2128375315
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg) rs529048339
NM_014845.6(FIG4):c.644G>A (p.Ser215Asn)
NM_014845.6(FIG4):c.646G>A (p.Gly216Arg)
NM_014845.6(FIG4):c.711A>G (p.Ile237Met)
NM_014845.6(FIG4):c.743T>C (p.Leu248Ser)
NM_014845.6(FIG4):c.744G>A (p.Leu248=) rs76125290
NM_014845.6(FIG4):c.790G>A (p.Gly264Arg)
NM_014845.6(FIG4):c.7A>T (p.Thr3Ser)
NM_014845.6(FIG4):c.847C>T (p.Arg283Cys)
NM_014845.6(FIG4):c.848G>A (p.Arg283His) rs1562655830
NM_014845.6(FIG4):c.868A>G (p.Asn290Asp)
NM_014845.6(FIG4):c.964G>T (p.Val322Leu)

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