ClinVar Miner

List of variants in gene UNC13D studied for Autoinflammatory syndrome

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_199242.3(UNC13D):c.117+59C>T rs3744010 0.31218
NM_199242.3(UNC13D):c.1744C>T (p.Leu582=) rs75853379 0.02622
NM_199242.2(UNC13D):c.-260C>T rs113482537 0.01892
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116 0.01644
NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr) rs9904366 0.01403
NM_199242.3(UNC13D):c.3252T>C (p.His1084=) rs61753922 0.01313
NM_199242.3(UNC13D):c.904C>T (p.Leu302Phe) rs55661958 0.01066
NM_199242.3(UNC13D):c.753+3G>A rs116229331 0.00627
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met) rs113861754 0.00355
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val) rs61754871 0.00194
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile) rs149871493 0.00162
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313 0.00106
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432 0.00105
NM_199242.3(UNC13D):c.24G>A (p.Pro8=) rs143320460 0.00095
NM_199242.3(UNC13D):c.99G>A (p.Pro33=) rs147886860 0.00090
NM_199242.3(UNC13D):c.1772C>T (p.Pro591Leu) rs144852879 0.00073
NM_199242.3(UNC13D):c.2052C>G (p.Leu684=) rs150861045 0.00070
NM_199242.3(UNC13D):c.1232G>A (p.Arg411Gln) rs200109035 0.00067
NM_199242.3(UNC13D):c.3160A>G (p.Ile1054Val) rs150952348 0.00051
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419 0.00040
NM_199242.3(UNC13D):c.3033C>T (p.Ala1011=) rs144730861 0.00030
NM_199242.3(UNC13D):c.972C>T (p.Asp324=) rs368990813 0.00029
NM_199242.3(UNC13D):c.1759C>T (p.Arg587Cys) rs148574729 0.00021
NM_199242.3(UNC13D):c.811C>T (p.Pro271Ser) rs139564938 0.00020
NM_199242.3(UNC13D):c.114G>A (p.Pro38=) rs755103812 0.00019
NM_199242.3(UNC13D):c.887C>T (p.Pro296Leu) rs541737648 0.00019
NM_199242.3(UNC13D):c.261+8C>T rs573508258 0.00014
NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln) rs747390615 0.00013
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp) rs140184929 0.00013
NM_199242.3(UNC13D):c.2973G>A (p.Pro991=) rs564875531 0.00011
NM_199242.3(UNC13D):c.1626G>A (p.Thr542=) rs371924071 0.00010
NM_199242.3(UNC13D):c.154-8T>A rs369433391 0.00009
NM_199242.3(UNC13D):c.1216G>A (p.Gly406Ser) rs149099554 0.00007
NM_199242.3(UNC13D):c.1389+1G>A rs777759523 0.00006
NM_199242.3(UNC13D):c.1773G>T (p.Pro591=) rs367988204 0.00006
NM_199242.3(UNC13D):c.2219C>T (p.Thr740Met) rs761013333 0.00006
NM_199242.3(UNC13D):c.2499C>T (p.Ala833=) rs200014965 0.00006
NM_199242.3(UNC13D):c.881C>T (p.Ser294Leu) rs370741117 0.00006
NM_199242.3(UNC13D):c.118-9G>C rs527842266 0.00004
NM_199242.3(UNC13D):c.2137G>A (p.Gly713Ser) rs115353346 0.00004
NM_199242.3(UNC13D):c.*3G>A rs531729868 0.00003
NM_199242.3(UNC13D):c.2258G>T (p.Gly753Val) rs1418183549 0.00003
NM_199242.3(UNC13D):c.3270G>A (p.Pro1090=) rs545430645 0.00003
NM_199242.3(UNC13D):c.261+9G>A rs754902598 0.00002
NM_199242.3(UNC13D):c.3122G>A (p.Arg1041His) rs374478310 0.00002
NM_199242.3(UNC13D):c.1055+1G>A rs754205110 0.00001
NM_199242.3(UNC13D):c.1229_1230dup (p.Arg411fs) rs747180228 0.00001
NM_199242.3(UNC13D):c.1708C>T (p.Arg570Cys) rs549768303 0.00001
NM_199242.3(UNC13D):c.2370C>T (p.Ala790=) rs747428323 0.00001
NM_199242.3(UNC13D):c.640C>T (p.Arg214Ter) rs769243366 0.00001
NM_199242.3(UNC13D):c.731G>A (p.Gly244Glu) rs975849011 0.00001
NM_199242.3(UNC13D):c.869C>T (p.Ser290Leu) rs202020396 0.00001
NM_199242.3(UNC13D):c.1202C>T (p.Ser401Phe) rs758867274
NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter) rs755348845
NM_199242.3(UNC13D):c.1813_1830del (p.Leu605_Arg610del) rs2143878241
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro) rs377293829
NM_199242.3(UNC13D):c.1857C>T (p.Pro619=) rs2143877155
NM_199242.3(UNC13D):c.1947G>A (p.Trp649Ter) rs868318523
NM_199242.3(UNC13D):c.2259C>A (p.Gly753=) rs1354115593
NM_199242.3(UNC13D):c.2261A>C (p.His754Pro) rs1446115570
NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs) rs764196809
NM_199242.3(UNC13D):c.2410T>C (p.Tyr804His) rs2143871262
NM_199242.3(UNC13D):c.247C>T (p.Arg83Ter) rs1274685768
NM_199242.3(UNC13D):c.280GAG[3] (p.Glu95dup) rs772459675
NM_199242.3(UNC13D):c.3097del (p.Glu1033fs) rs2143860891
NM_199242.3(UNC13D):c.3151G>A (p.Gly1051Arg) rs1232542382
NM_199242.3(UNC13D):c.321+9G>A rs779684660
NM_199242.3(UNC13D):c.519G>C (p.Thr173=) rs370278536
NM_199242.3(UNC13D):c.570-2A>T rs770325118
NM_199242.3(UNC13D):c.570-6A>C rs2143894697
NM_199242.3(UNC13D):c.629T>G (p.Val210Gly) rs553365957
NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter) rs121434352
NM_199242.3(UNC13D):c.907C>T (p.His303Tyr) rs2064936586

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