ClinVar Miner

List of variants in gene FIG4 reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
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.1242T>C (p.Ile414=) rs61729087 0.00891
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00462
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.2459+5G>A rs367944508 0.00038
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.328A>G (p.Ile110Val) rs140331779 0.00018
NM_014845.6(FIG4):c.1348C>T (p.Arg450Cys) rs201072058 0.00014
NM_014845.6(FIG4):c.1863C>A (p.Thr621=) rs201744761 0.00011
NM_014845.6(FIG4):c.102G>A (p.Thr34=) rs145711919 0.00010
NM_014845.6(FIG4):c.2376+9G>A rs374450869 0.00010
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.793C>T (p.Arg265Ter) rs774294963 0.00006
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys) rs372846619 0.00005
NM_014845.6(FIG4):c.1405G>A (p.Gly469Arg) rs201742496 0.00004
NM_014845.6(FIG4):c.2095C>T (p.Arg699Cys) rs764799053 0.00004
NM_014845.6(FIG4):c.14C>T (p.Ala5Val) rs915749340 0.00003
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn) rs377017892 0.00003
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr) rs764958115 0.00002
NM_014845.6(FIG4):c.1069G>A (p.Ala357Thr) rs376772954 0.00001
NM_014845.6(FIG4):c.1350C>G (p.Arg450=) rs763035100 0.00001
NM_014845.6(FIG4):c.2116G>A (p.Val706Ile) rs754830354 0.00001
NM_014845.6(FIG4):c.2238G>A (p.Pro746=) rs753867543 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.2467C>T (p.Gln823Ter) rs745790694 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.309A>C (p.Glu103Asp) rs151070087 0.00001
NM_014845.6(FIG4):c.1199A>G (p.Tyr400Cys) rs755232396
NM_014845.6(FIG4):c.1403G>A (p.Gly468Glu) rs1583699947
NM_014845.6(FIG4):c.1610A>C (p.His537Pro)
NM_014845.6(FIG4):c.1666dup (p.Thr556fs) rs772320287
NM_014845.6(FIG4):c.1877C>T (p.Pro626Leu) rs772937400
NM_014845.6(FIG4):c.1889+1G>T
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2460A>C (p.Arg820Ser) rs886060984
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014845.6(FIG4):c.2568G>A (p.Ser856=) rs140055056
NM_014845.6(FIG4):c.295G>T (p.Val99Phe)
NM_014845.6(FIG4):c.454C>T (p.Arg152Ter) rs1175493477
NM_014845.6(FIG4):c.499T>G (p.Tyr167Asp) rs1337166091
NM_014845.6(FIG4):c.744G>A (p.Leu248=) rs76125290
NM_014845.6(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.6(FIG4):c.848G>A (p.Arg283His) rs1562655830

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