ClinVar Miner

List of variants in gene UNC13D reported as uncertain significance for lymphatic system disorder

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 506
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HGVS dbSNP gnomAD frequency
NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr) rs9904366 0.01403
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.2341G>A (p.Val781Ile) rs149871493 0.00162
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met) rs78028658 0.00153
NM_199242.3(UNC13D):c.*621C>T rs181467869 0.00140
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_199242.2(UNC13D):c.-229C>G rs569893312 0.00089
NM_199242.3(UNC13D):c.610A>G (p.Met204Val) rs144722609 0.00081
NM_199242.3(UNC13D):c.1772C>T (p.Pro591Leu) rs144852879 0.00073
NM_199242.3(UNC13D):c.1389+12G>A rs199536082 0.00070
NM_199242.3(UNC13D):c.858+12A>C rs191712530 0.00063
NM_199242.3(UNC13D):c.1174-15C>G rs374069629 0.00059
NM_199242.3(UNC13D):c.3078C>T (p.Pro1026=) rs372034111 0.00056
NM_199242.3(UNC13D):c.2553+5C>G rs201930023 0.00051
NM_199242.3(UNC13D):c.3160A>G (p.Ile1054Val) rs150952348 0.00051
NM_199242.3(UNC13D):c.2368-5C>T rs180768962 0.00045
NM_199242.3(UNC13D):c.2278G>A (p.Val760Ile) rs143264522 0.00044
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419 0.00040
NM_199242.3(UNC13D):c.1215C>T (p.Tyr405=) rs143184345 0.00034
NM_199242.3(UNC13D):c.444G>A (p.Gly148=) rs373551579 0.00034
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.1076G>A (p.Arg359His) rs146611729 0.00019
NM_199242.3(UNC13D):c.114G>A (p.Pro38=) rs755103812 0.00019
NM_199242.3(UNC13D):c.3145C>G (p.Pro1049Ala) rs750743318 0.00019
NM_199242.3(UNC13D):c.887C>T (p.Pro296Leu) rs541737648 0.00019
NM_199242.3(UNC13D):c.3269C>T (p.Pro1090Leu) rs751649441 0.00018
NM_199242.3(UNC13D):c.481G>A (p.Val161Met) rs148148746 0.00016
NM_199242.3(UNC13D):c.670C>T (p.His224Tyr) rs145607492 0.00014
NM_199242.3(UNC13D):c.1520G>A (p.Arg507His) rs866295247 0.00013
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.2191G>A (p.Val731Met) rs377549461 0.00012
NM_199242.3(UNC13D):c.2510G>A (p.Arg837His) rs780296355 0.00012
NM_199242.3(UNC13D):c.3037G>A (p.Asp1013Asn) rs140837214 0.00012
NM_199242.3(UNC13D):c.3182G>A (p.Arg1061Gln) rs79891552 0.00012
NM_199242.3(UNC13D):c.2242G>A (p.Ala748Thr) rs200980507 0.00011
NM_199242.3(UNC13D):c.467G>A (p.Arg156Gln) rs370610759 0.00011
NM_199242.3(UNC13D):c.2083G>A (p.Ala695Thr) rs145589230 0.00010
NM_199242.3(UNC13D):c.3259C>T (p.Arg1087Trp) rs533281672 0.00010
NM_199242.3(UNC13D):c.1760G>A (p.Arg587His) rs201600711 0.00009
NM_199242.3(UNC13D):c.1934G>A (p.Arg645Gln) rs371162326 0.00009
NM_199242.3(UNC13D):c.2553+12G>A rs560520169 0.00009
NM_199242.3(UNC13D):c.1152G>C (p.Gln384His) rs570422323 0.00008
NM_199242.3(UNC13D):c.2243C>T (p.Ala748Val) rs375724532 0.00008
NM_199242.3(UNC13D):c.1216G>A (p.Gly406Ser) rs149099554 0.00007
NM_199242.3(UNC13D):c.1928C>T (p.Thr643Ile) rs184046644 0.00007
NM_199242.3(UNC13D):c.2241C>T (p.Ser747=) rs372453702 0.00007
NM_199242.3(UNC13D):c.273G>A (p.Val91=) rs149494974 0.00007
NM_199242.3(UNC13D):c.794C>G (p.Pro265Arg) rs200265541 0.00007
NM_199242.3(UNC13D):c.1014C>T (p.His338=) rs375097777 0.00006
NM_199242.3(UNC13D):c.1189G>A (p.Ala397Thr) rs769602840 0.00006
NM_199242.3(UNC13D):c.1532A>C (p.Lys511Thr) rs771633331 0.00006
NM_199242.3(UNC13D):c.1741G>T (p.Ala581Ser) rs763766894 0.00006
NM_199242.3(UNC13D):c.2044C>T (p.Arg682Cys) rs755931780 0.00006
NM_199242.3(UNC13D):c.2219C>T (p.Thr740Met) rs761013333 0.00006
NM_199242.3(UNC13D):c.2384T>C (p.Met795Thr) rs372220517 0.00006
NM_199242.3(UNC13D):c.3068G>A (p.Arg1023His) rs751157590 0.00006
NM_199242.3(UNC13D):c.3238C>T (p.Gln1080Ter) rs545293601 0.00006
NM_199242.3(UNC13D):c.32G>C (p.Arg11Pro) rs574927621 0.00006
NM_199242.3(UNC13D):c.460C>T (p.Arg154Trp) rs749259935 0.00006
NM_199242.3(UNC13D):c.71G>A (p.Arg24His) rs777619516 0.00006
NM_199242.3(UNC13D):c.881C>T (p.Ser294Leu) rs370741117 0.00006
NM_199242.3(UNC13D):c.*317C>T rs767459692 0.00005
NM_199242.3(UNC13D):c.*502C>A rs987164404 0.00005
NM_199242.3(UNC13D):c.1156C>T (p.Arg386Trp) rs536336944 0.00005
NM_199242.3(UNC13D):c.1819C>G (p.Arg607Gly) rs374106771 0.00005
NM_199242.3(UNC13D):c.1848+2dup rs774635307 0.00005
NM_199242.3(UNC13D):c.2174A>G (p.Glu725Gly) rs757899809 0.00005
NM_199242.3(UNC13D):c.3052G>T (p.Ala1018Ser) rs553992292 0.00005
NM_199242.3(UNC13D):c.67C>T (p.Arg23Cys) rs575632298 0.00005
NM_199242.3(UNC13D):c.857G>A (p.Arg286Gln) rs139155193 0.00005
NM_199242.3(UNC13D):c.898G>A (p.Val300Met) rs141499220 0.00005
NM_199242.3(UNC13D):c.1039T>C (p.Phe347Leu) rs777550761 0.00004
NM_199242.3(UNC13D):c.1279C>T (p.Arg427Trp) rs779947557 0.00004
NM_199242.3(UNC13D):c.1597G>A (p.Val533Met) rs201663917 0.00004
NM_199242.3(UNC13D):c.2002C>T (p.Arg668Cys) rs376137910 0.00004
NM_199242.3(UNC13D):c.2003G>A (p.Arg668His) rs143939013 0.00004
NM_199242.3(UNC13D):c.2111A>G (p.Asp704Gly) rs762112010 0.00004
NM_199242.3(UNC13D):c.2137G>A (p.Gly713Ser) rs115353346 0.00004
NM_199242.3(UNC13D):c.2146C>T (p.Pro716Ser) rs774476484 0.00004
NM_199242.3(UNC13D):c.2149G>A (p.Ala717Thr) rs771145468 0.00004
NM_199242.3(UNC13D):c.2496G>A (p.Ala832=) rs763343306 0.00004
NM_199242.3(UNC13D):c.2554-13A>G rs533490795 0.00004
NM_199242.3(UNC13D):c.280G>A (p.Glu94Lys) rs537781874 0.00004
NM_199242.3(UNC13D):c.3062C>T (p.Pro1021Leu) rs375153464 0.00004
NM_199242.3(UNC13D):c.3067C>T (p.Arg1023Cys) rs140599939 0.00004
NM_199242.3(UNC13D):c.3248A>C (p.Gln1083Pro) rs766632931 0.00004
NM_199242.3(UNC13D):c.3263C>T (p.Pro1088Leu) rs564329348 0.00004
NM_199242.3(UNC13D):c.335G>C (p.Cys112Ser) rs141540493 0.00004
NM_199242.3(UNC13D):c.569+10C>T rs368069154 0.00004
NM_199242.3(UNC13D):c.5C>T (p.Ala2Val) rs752295384 0.00004
NM_199242.3(UNC13D):c.602A>G (p.His201Arg) rs200033170 0.00004
NM_199242.3(UNC13D):c.680G>A (p.Arg227His) rs751394792 0.00004
NM_199242.3(UNC13D):c.859-3C>T rs563600513 0.00004
NM_199242.3(UNC13D):c.962C>A (p.Thr321Asn) rs372716881 0.00004
NM_199242.3(UNC13D):c.973G>A (p.Gly325Arg) rs199909864 0.00004
NM_199242.3(UNC13D):c.*3G>A rs531729868 0.00003
NM_199242.3(UNC13D):c.1477G>A (p.Gly493Ser) rs759754878 0.00003
NM_199242.3(UNC13D):c.1730A>C (p.Asp577Ala) rs1011649256 0.00003
NM_199242.3(UNC13D):c.197G>A (p.Arg66His) rs371943727 0.00003
NM_199242.3(UNC13D):c.2254C>A (p.Leu752Met) rs756749933 0.00003
NM_199242.3(UNC13D):c.2282G>A (p.Arg761His) rs760020541 0.00003
NM_199242.3(UNC13D):c.2491G>A (p.Glu831Lys) rs774039644 0.00003
NM_199242.3(UNC13D):c.2495C>T (p.Ala832Val) rs201931051 0.00003
NM_199242.3(UNC13D):c.2972C>T (p.Pro991Leu) rs145549734 0.00003
NM_199242.3(UNC13D):c.3007G>A (p.Val1003Met) rs200462004 0.00003
NM_199242.3(UNC13D):c.3134C>T (p.Thr1045Met) rs201146973 0.00003
NM_199242.3(UNC13D):c.3142G>A (p.Ala1048Thr) rs758781229 0.00003
NM_199242.3(UNC13D):c.3223C>T (p.Arg1075Trp) rs370710344 0.00003
NM_199242.3(UNC13D):c.3224G>A (p.Arg1075Gln) rs377594755 0.00003
NM_199242.3(UNC13D):c.3260G>A (p.Arg1087Gln) rs760766927 0.00003
NM_199242.3(UNC13D):c.514C>T (p.Arg172Cys) rs560126604 0.00003
NM_199242.3(UNC13D):c.641G>A (p.Arg214Gln) rs761043074 0.00003
NM_199242.3(UNC13D):c.70C>A (p.Arg24Ser) rs749234163 0.00003
NM_199242.3(UNC13D):c.713G>A (p.Gly238Asp) rs775232059 0.00003
NM_199242.3(UNC13D):c.1000G>A (p.Val334Ile) rs373019036 0.00002
NM_199242.3(UNC13D):c.1027G>T (p.Asp343Tyr) rs150442758 0.00002
NM_199242.3(UNC13D):c.1075C>T (p.Arg359Cys) rs760457545 0.00002
NM_199242.3(UNC13D):c.1301T>C (p.Val434Ala) rs752360915 0.00002
NM_199242.3(UNC13D):c.1369C>A (p.Leu457Met) rs556930184 0.00002
NM_199242.3(UNC13D):c.1382C>T (p.Ala461Val) rs144078744 0.00002
NM_199242.3(UNC13D):c.1544+6C>G rs773025071 0.00002
NM_199242.3(UNC13D):c.1580G>A (p.Arg527Gln) rs775555882 0.00002
NM_199242.3(UNC13D):c.1616A>G (p.Asp539Gly) rs780794721 0.00002
NM_199242.3(UNC13D):c.1625C>T (p.Thr542Met) rs766409638 0.00002
NM_199242.3(UNC13D):c.1709G>A (p.Arg570His) rs774248632 0.00002
NM_199242.3(UNC13D):c.1777A>G (p.Ile593Val) rs776985159 0.00002
NM_199242.3(UNC13D):c.1829G>A (p.Arg610His) rs749184121 0.00002
NM_199242.3(UNC13D):c.1890G>A (p.Ala630=) rs753021453 0.00002
NM_199242.3(UNC13D):c.1933C>T (p.Arg645Trp) rs768266670 0.00002
NM_199242.3(UNC13D):c.2068G>A (p.Asp690Asn) rs550419919 0.00002
NM_199242.3(UNC13D):c.2298+3A>G rs773604668 0.00002
NM_199242.3(UNC13D):c.2299T>C (p.Leu767=) rs371685442 0.00002
NM_199242.3(UNC13D):c.2507A>T (p.Gln836Leu) rs747265361 0.00002
NM_199242.3(UNC13D):c.271G>A (p.Val91Met) rs374308904 0.00002
NM_199242.3(UNC13D):c.3022A>C (p.Thr1008Pro) rs753816739 0.00002
NM_199242.3(UNC13D):c.3122G>A (p.Arg1041His) rs374478310 0.00002
NM_199242.3(UNC13D):c.3208T>C (p.Phe1070Leu) rs769221887 0.00002
NM_199242.3(UNC13D):c.3229_3235del (p.Arg1077fs) rs766652119 0.00002
NM_199242.3(UNC13D):c.515G>A (p.Arg172His) rs769659694 0.00002
NM_199242.3(UNC13D):c.628G>C (p.Val210Leu) rs917497461 0.00002
NM_199242.3(UNC13D):c.701G>A (p.Arg234Gln) rs560990369 0.00002
NM_199242.3(UNC13D):c.721G>A (p.Asp241Asn) rs765792484 0.00002
NM_199242.3(UNC13D):c.755A>T (p.Asp252Val) rs1131691264 0.00002
NM_199242.3(UNC13D):c.856C>T (p.Arg286Trp) rs142618705 0.00002
NM_199242.3(UNC13D):c.903C>A (p.His301Gln) rs544643767 0.00002
NM_199242.2(UNC13D):c.-115C>T rs886053425 0.00001
NM_199242.2(UNC13D):c.-158C>T rs886053426 0.00001
NM_199242.3(UNC13D):c.1018A>G (p.Thr340Ala) rs2064935031 0.00001
NM_199242.3(UNC13D):c.1019C>T (p.Thr340Ile) rs754889453 0.00001
NM_199242.3(UNC13D):c.1135G>A (p.Glu379Lys) rs151047555 0.00001
NM_199242.3(UNC13D):c.1183C>G (p.Leu395Val) rs1023140477 0.00001
NM_199242.3(UNC13D):c.1240C>T (p.Arg414Cys) rs750811263 0.00001
NM_199242.3(UNC13D):c.1282C>G (p.Leu428Val) rs2064910555 0.00001
NM_199242.3(UNC13D):c.1519C>T (p.Arg507Cys) rs746549838 0.00001
NM_199242.3(UNC13D):c.1556T>C (p.Ile519Thr) rs1402195363 0.00001
NM_199242.3(UNC13D):c.155G>A (p.Arg52Gln) rs750613531 0.00001
NM_199242.3(UNC13D):c.156G>T (p.Arg52=) rs111728477 0.00001
NM_199242.3(UNC13D):c.1606C>T (p.Arg536Trp) rs780530249 0.00001
NM_199242.3(UNC13D):c.1622C>T (p.Thr541Met) rs3744025 0.00001
NM_199242.3(UNC13D):c.1696C>G (p.Leu566Val) rs1302541348 0.00001
NM_199242.3(UNC13D):c.169G>A (p.Glu57Lys) rs767617631 0.00001
NM_199242.3(UNC13D):c.1708C>T (p.Arg570Cys) rs549768303 0.00001
NM_199242.3(UNC13D):c.1721C>T (p.Ser574Leu) rs981574088 0.00001
NM_199242.3(UNC13D):c.1799C>T (p.Thr600Met) rs770859494 0.00001
NM_199242.3(UNC13D):c.1811C>T (p.Ala604Val) rs1358177458 0.00001
NM_199242.3(UNC13D):c.1841T>A (p.Met614Lys) rs139282207 0.00001
NM_199242.3(UNC13D):c.1962G>C (p.Glu654Asp) rs368817708 0.00001
NM_199242.3(UNC13D):c.196C>T (p.Arg66Cys) rs996214730 0.00001
NM_199242.3(UNC13D):c.2038C>T (p.Arg680Trp) rs200341276 0.00001
NM_199242.3(UNC13D):c.2091+2_2091+3dup rs778809705 0.00001
NM_199242.3(UNC13D):c.2116G>C (p.Glu706Gln) rs140332182 0.00001
NM_199242.3(UNC13D):c.2179C>T (p.Arg727Trp) rs564709979 0.00001
NM_199242.3(UNC13D):c.2197G>A (p.Glu733Lys) rs1469229658 0.00001
NM_199242.3(UNC13D):c.2293G>A (p.Glu765Lys) rs763117746 0.00001
NM_199242.3(UNC13D):c.2377C>T (p.Pro793Ser) rs772555038 0.00001
NM_199242.3(UNC13D):c.2383A>T (p.Met795Leu) rs1385939686 0.00001
NM_199242.3(UNC13D):c.23C>T (p.Pro8Leu) rs766811197 0.00001
NM_199242.3(UNC13D):c.2411A>G (p.Tyr804Cys) rs1316684824 0.00001
NM_199242.3(UNC13D):c.248G>A (p.Arg83Gln) rs143944122 0.00001
NM_199242.3(UNC13D):c.2500G>A (p.Ala834Thr) rs748256131 0.00001
NM_199242.3(UNC13D):c.2557C>A (p.Leu853Met) rs1457768794 0.00001
NM_199242.3(UNC13D):c.2618C>T (p.Thr873Ile) rs1322992956 0.00001
NM_199242.3(UNC13D):c.2968G>A (p.Glu990Lys) rs1157428482 0.00001
NM_199242.3(UNC13D):c.2977C>T (p.Arg993Cys) rs759922688 0.00001
NM_199242.3(UNC13D):c.3011T>C (p.Leu1004Pro) rs371940934 0.00001
NM_199242.3(UNC13D):c.3013G>C (p.Asp1005His) rs745623386 0.00001
NM_199242.3(UNC13D):c.3023C>T (p.Thr1008Met) rs777496354 0.00001
NM_199242.3(UNC13D):c.304C>T (p.Arg102Trp) rs749533827 0.00001
NM_199242.3(UNC13D):c.305G>A (p.Arg102Gln) rs778208597 0.00001
NM_199242.3(UNC13D):c.3077C>G (p.Pro1026Arg) rs765680080 0.00001
NM_199242.3(UNC13D):c.3079G>A (p.Gly1027Arg) rs776703437 0.00001
NM_199242.3(UNC13D):c.3127C>T (p.Pro1043Ser) rs780811495 0.00001
NM_199242.3(UNC13D):c.3141C>A (p.Pro1047=) rs866899109 0.00001
NM_199242.3(UNC13D):c.3150C>T (p.Asn1050=) rs764279026 0.00001
NM_199242.3(UNC13D):c.3158C>T (p.Pro1053Leu) rs2062136435 0.00001
NM_199242.3(UNC13D):c.3181C>T (p.Arg1061Trp) rs1380958280 0.00001
NM_199242.3(UNC13D):c.3204_3206del (p.Gln1068_Val1069delinsHis) rs1219204037 0.00001
NM_199242.3(UNC13D):c.3220C>T (p.Arg1074Trp) rs749580256 0.00001
NM_199242.3(UNC13D):c.328A>G (p.Ile110Val) rs547919091 0.00001
NM_199242.3(UNC13D):c.334T>C (p.Cys112Arg) rs771709162 0.00001
NM_199242.3(UNC13D):c.419T>C (p.Ile140Thr) rs1181554837 0.00001
NM_199242.3(UNC13D):c.455G>A (p.Gly152Glu) rs774159498 0.00001
NM_199242.3(UNC13D):c.461G>A (p.Arg154Gln) rs772954576 0.00001
NM_199242.3(UNC13D):c.47G>A (p.Arg16His) rs149195431 0.00001
NM_199242.3(UNC13D):c.511C>T (p.His171Tyr) rs752856512 0.00001
NM_199242.3(UNC13D):c.518C>T (p.Thr173Met) rs775835680 0.00001
NM_199242.3(UNC13D):c.523G>T (p.Val175Phe) rs768225300 0.00001
NM_199242.3(UNC13D):c.560C>G (p.Thr187Ser) rs563841795 0.00001
NM_199242.3(UNC13D):c.615-3C>T rs1319687389 0.00001
NM_199242.3(UNC13D):c.634T>G (p.Ser212Ala) rs1415407939 0.00001
NM_199242.3(UNC13D):c.652G>T (p.Gly218Trp) rs775666284 0.00001
NM_199242.3(UNC13D):c.700C>T (p.Arg234Trp) rs1194073667 0.00001
NM_199242.3(UNC13D):c.760C>T (p.Arg254Cys) rs558726483 0.00001
NM_199242.3(UNC13D):c.796C>T (p.Arg266Cys) rs781047872 0.00001
NM_199242.3(UNC13D):c.818G>A (p.Arg273Gln) rs764351769 0.00001
NM_199242.3(UNC13D):c.858+8G>A rs746620594 0.00001
NM_199242.3(UNC13D):c.869C>T (p.Ser290Leu) rs202020396 0.00001
NM_199242.3(UNC13D):c.929C>T (p.Ser310Phe) rs757125102 0.00001
NM_199242.3(UNC13D):c.953C>T (p.Ala318Val) rs1387995062 0.00001
NM_199242.3(UNC13D):c.954G>A (p.Ala318=) rs751058445 0.00001
NM_199242.3(UNC13D):c.977C>T (p.Ser326Leu) rs762385167 0.00001
NC_000017.10:g.(?_73824026)_(73826583_?)dup
NC_000017.10:g.(?_73824046)_(73830244_?)dup
NM_199242.2(UNC13D):c.-176G>A rs886053427
NM_199242.2(UNC13D):c.-278C>T rs886053428
NM_199242.3(UNC13D):c.*18G>A rs886053421
NM_199242.3(UNC13D):c.*535A>G rs2062131134
NM_199242.3(UNC13D):c.*663C>A rs562884111
NM_199242.3(UNC13D):c.*692C>G rs907700228
NM_199242.3(UNC13D):c.1008T>A (p.Phe336Leu)
NM_199242.3(UNC13D):c.1012C>T (p.His338Tyr)
NM_199242.3(UNC13D):c.1024A>G (p.Lys342Glu)
NM_199242.3(UNC13D):c.1026G>C (p.Lys342Asn)
NM_199242.3(UNC13D):c.1048T>C (p.Ser350Pro) rs1364911644
NM_199242.3(UNC13D):c.1049C>T (p.Ser350Phe) rs2064934780
NM_199242.3(UNC13D):c.1051A>G (p.Met351Val)
NM_199242.3(UNC13D):c.1052T>C (p.Met351Thr)
NM_199242.3(UNC13D):c.1055+3G>A
NM_199242.3(UNC13D):c.1055C>A (p.Ala352Glu) rs532376208
NM_199242.3(UNC13D):c.1076G>T (p.Arg359Leu) rs146611729
NM_199242.3(UNC13D):c.1106G>A (p.Ser369Asn) rs1192412855
NM_199242.3(UNC13D):c.113C>T (p.Pro38Leu) rs202020609
NM_199242.3(UNC13D):c.117+19G>A
NM_199242.3(UNC13D):c.1174-3C>G
NM_199242.3(UNC13D):c.117G>A (p.Glu39=)
NM_199242.3(UNC13D):c.1193C>T (p.Ser398Leu) rs747756030
NM_199242.3(UNC13D):c.1199G>A (p.Ser400Asn)
NM_199242.3(UNC13D):c.1201_1202delinsAA (p.Ser401Asn) rs2064911558
NM_199242.3(UNC13D):c.1202C>T (p.Ser401Phe) rs758867274
NM_199242.3(UNC13D):c.1204C>T (p.Leu402=) rs568125844
NM_199242.3(UNC13D):c.1229T>C (p.Ile410Thr) rs2143882443
NM_199242.3(UNC13D):c.1236G>C (p.Arg412Ser) rs764771345
NM_199242.3(UNC13D):c.1241G>A (p.Arg414His) rs768171054
NM_199242.3(UNC13D):c.1246G>A (p.Val416Ile)
NM_199242.3(UNC13D):c.1255C>A (p.Leu419Ile)
NM_199242.3(UNC13D):c.1255C>G (p.Leu419Val)
NM_199242.3(UNC13D):c.1255C>T (p.Leu419Phe) rs746314361
NM_199242.3(UNC13D):c.1265C>T (p.Ser422Leu)
NM_199242.3(UNC13D):c.1266_1271del (p.Asp423_Ser424del) rs2064910679
NM_199242.3(UNC13D):c.1280G>A (p.Arg427Gln)
NM_199242.3(UNC13D):c.1283T>G (p.Leu428Arg)
NM_199242.3(UNC13D):c.1298G>A (p.Arg433Lys)
NM_199242.3(UNC13D):c.1299G>C (p.Arg433Ser) rs372314255
NM_199242.3(UNC13D):c.1311G>T (p.Gln437His)
NM_199242.3(UNC13D):c.1327G>T (p.Ala443Ser) rs759944295
NM_199242.3(UNC13D):c.1333G>A (p.Gly445Arg)
NM_199242.3(UNC13D):c.1336G>A (p.Glu446Lys)
NM_199242.3(UNC13D):c.1340T>G (p.Leu447Arg) rs1333471306
NM_199242.3(UNC13D):c.1346C>G (p.Pro449Arg) rs1051792709
NM_199242.3(UNC13D):c.1354G>A (p.Ala452Thr)
NM_199242.3(UNC13D):c.1363C>T (p.Pro455Ser) rs2143881541
NM_199242.3(UNC13D):c.1364C>A (p.Pro455His)
NM_199242.3(UNC13D):c.1388A>C (p.Gln463Pro)
NM_199242.3(UNC13D):c.1389+6G>A rs2143881463
NM_199242.3(UNC13D):c.1391C>T (p.Thr464Ile)
NM_199242.3(UNC13D):c.1393G>A (p.Gly465Ser)
NM_199242.3(UNC13D):c.1408T>C (p.Phe470Leu) rs886053423
NM_199242.3(UNC13D):c.1448G>A (p.Gly483Asp)
NM_199242.3(UNC13D):c.1454C>T (p.Pro485Leu) rs550974990
NM_199242.3(UNC13D):c.147C>G (p.Pro49=) rs749672259
NM_199242.3(UNC13D):c.147C>T (p.Pro49=) rs749672259
NM_199242.3(UNC13D):c.1487A>G (p.Gln496Arg) rs2143880587
NM_199242.3(UNC13D):c.148G>A (p.Glu50Lys)
NM_199242.3(UNC13D):c.1501G>A (p.Asp501Asn)
NM_199242.3(UNC13D):c.1533G>T (p.Lys511Asn) rs2064906221
NM_199242.3(UNC13D):c.1544+20G>A
NM_199242.3(UNC13D):c.154C>T (p.Arg52Trp)
NM_199242.3(UNC13D):c.1562T>C (p.Leu521Pro)
NM_199242.3(UNC13D):c.1574C>T (p.Ala525Val) rs2064905120
NM_199242.3(UNC13D):c.1596+15C>G rs574478720
NM_199242.3(UNC13D):c.1606C>G (p.Arg536Gly) rs780530249
NM_199242.3(UNC13D):c.1607G>A (p.Arg536Gln) rs143305366
NM_199242.3(UNC13D):c.1607G>T (p.Arg536Leu) rs143305366
NM_199242.3(UNC13D):c.1609G>A (p.Val537Met)
NM_199242.3(UNC13D):c.1637A>G (p.Asp546Gly)
NM_199242.3(UNC13D):c.1643T>C (p.Val548Ala)
NM_199242.3(UNC13D):c.1655T>C (p.Met552Thr)
NM_199242.3(UNC13D):c.1661A>G (p.Glu554Gly)
NM_199242.3(UNC13D):c.1681A>G (p.Ile561Val)
NM_199242.3(UNC13D):c.1712T>G (p.Met571Arg) rs2143879204
NM_199242.3(UNC13D):c.1715G>C (p.Ser572Thr) rs894427230
NM_199242.3(UNC13D):c.1728-13C>T rs745855631
NM_199242.3(UNC13D):c.1744C>G (p.Leu582Val)
NM_199242.3(UNC13D):c.1758C>T (p.His586=) rs759891490
NM_199242.3(UNC13D):c.1760G>T (p.Arg587Leu) rs201600711
NM_199242.3(UNC13D):c.1781C>T (p.Pro594Leu) rs1397601840
NM_199242.3(UNC13D):c.178C>T (p.Leu60Phe)
NM_199242.3(UNC13D):c.1799C>A (p.Thr600Lys)
NM_199242.3(UNC13D):c.17C>T (p.Ser6Phe) rs2143904920
NM_199242.3(UNC13D):c.1807G>A (p.Glu603Lys)
NM_199242.3(UNC13D):c.1819C>T (p.Arg607Trp) rs374106771
NM_199242.3(UNC13D):c.181T>C (p.Tyr61His) rs2143901173
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro) rs377293829
NM_199242.3(UNC13D):c.1828C>T (p.Arg610Cys)
NM_199242.3(UNC13D):c.1831G>A (p.Ala611Thr)
NM_199242.3(UNC13D):c.1849-3C>T rs971483041
NM_199242.3(UNC13D):c.1867C>A (p.Leu623Met) rs1461192239
NM_199242.3(UNC13D):c.1889C>T (p.Ala630Val)
NM_199242.3(UNC13D):c.1894G>A (p.Asp632Asn) rs762778765
NM_199242.3(UNC13D):c.1904C>T (p.Thr635Ile) rs2064897469
NM_199242.3(UNC13D):c.1930G>A (p.Ala644Thr) rs2143876974
NM_199242.3(UNC13D):c.1955C>T (p.Pro652Leu) rs746256202
NM_199242.3(UNC13D):c.197G>T (p.Arg66Leu) rs371943727
NM_199242.3(UNC13D):c.1981A>C (p.Lys661Gln)
NM_199242.3(UNC13D):c.1985T>C (p.Phe662Ser) rs2064896757
NM_199242.3(UNC13D):c.1992+4C>T rs764950480
NM_199242.3(UNC13D):c.1992+5G>T rs17581728
NM_199242.3(UNC13D):c.1992G>C (p.Glu664Asp)
NM_199242.3(UNC13D):c.202G>A (p.Gly68Ser)
NM_199242.3(UNC13D):c.2030T>C (p.Ile677Thr)
NM_199242.3(UNC13D):c.2035G>T (p.Ala679Ser) rs1321621237
NM_199242.3(UNC13D):c.2039G>A (p.Arg680Gln) rs201324352
NM_199242.3(UNC13D):c.2042C>A (p.Ala681Asp) rs202113667
NM_199242.3(UNC13D):c.2044C>A (p.Arg682Ser) rs755931780
NM_199242.3(UNC13D):c.2045G>A (p.Arg682His) rs145366134
NM_199242.3(UNC13D):c.2047G>A (p.Glu683Lys) rs766154876
NM_199242.3(UNC13D):c.2047G>C (p.Glu683Gln) rs766154876
NM_199242.3(UNC13D):c.2060G>A (p.Gly687Asp) rs1054138754
NM_199242.3(UNC13D):c.2063A>C (p.Gln688Pro)
NM_199242.3(UNC13D):c.2063A>G (p.Gln688Arg) rs777159773
NM_199242.3(UNC13D):c.2074G>A (p.Gly692Ser) rs2143875873
NM_199242.3(UNC13D):c.2089A>G (p.Met697Val) rs977219681
NM_199242.3(UNC13D):c.2095T>C (p.Cys699Arg)
NM_199242.3(UNC13D):c.2096G>A (p.Cys699Tyr) rs2064893465
NM_199242.3(UNC13D):c.2098G>T (p.Val700Leu) rs1599407040
NM_199242.3(UNC13D):c.2101G>C (p.Val701Leu)
NM_199242.3(UNC13D):c.2108A>G (p.Asn703Ser)
NM_199242.3(UNC13D):c.2125C>T (p.Arg709Trp) rs548101215
NM_199242.3(UNC13D):c.2136C>G (p.Ile712Met) rs112245411
NM_199242.3(UNC13D):c.2161T>C (p.Trp721Arg)
NM_199242.3(UNC13D):c.2171T>A (p.Leu724Gln)
NM_199242.3(UNC13D):c.2239A>G (p.Ser747Gly)
NM_199242.3(UNC13D):c.2240G>A (p.Ser747Asn)
NM_199242.3(UNC13D):c.2241C>A (p.Ser747Arg) rs372453702
NM_199242.3(UNC13D):c.2269C>T (p.Arg757Cys) rs1207229316
NM_199242.3(UNC13D):c.2270G>A (p.Arg757His)
NM_199242.3(UNC13D):c.2278G>C (p.Val760Leu) rs143264522
NM_199242.3(UNC13D):c.2308G>A (p.Gly770Ser)
NM_199242.3(UNC13D):c.2338G>A (p.Gly780Ser)
NM_199242.3(UNC13D):c.2346G>C (p.Arg782Ser)
NM_199242.3(UNC13D):c.2349G>C (p.Glu783Asp)
NM_199242.3(UNC13D):c.2368G>C (p.Ala790Pro) rs865794224
NM_199242.3(UNC13D):c.2380C>A (p.Leu794Met) rs1166719662
NM_199242.3(UNC13D):c.2398G>A (p.Val800Met)
NM_199242.3(UNC13D):c.2404C>G (p.Leu802Val)
NM_199242.3(UNC13D):c.2413A>G (p.Met805Val)
NM_199242.3(UNC13D):c.2438A>T (p.Asn813Ile)
NM_199242.3(UNC13D):c.2447+5G>A
NM_199242.3(UNC13D):c.2448-13G>A rs753762300
NM_199242.3(UNC13D):c.2452C>A (p.Leu818Met) rs2143867670
NM_199242.3(UNC13D):c.2456C>T (p.Thr819Ile)
NM_199242.3(UNC13D):c.2466G>T (p.Trp822Cys) rs2143867645
NM_199242.3(UNC13D):c.2471A>G (p.His824Arg) rs759207238
NM_199242.3(UNC13D):c.2473A>C (p.Thr825Pro) rs1330364586
NM_199242.3(UNC13D):c.2480C>A (p.Thr827Lys) rs1163818709
NM_199242.3(UNC13D):c.2506C>T (p.Gln836Ter) rs768875290
NM_199242.3(UNC13D):c.2509C>T (p.Arg837Cys)
NM_199242.3(UNC13D):c.2522T>C (p.Leu841Pro)
NM_199242.3(UNC13D):c.2524G>T (p.Ala842Ser) rs2143867469
NM_199242.3(UNC13D):c.2525C>T (p.Ala842Val) rs749065266
NM_199242.3(UNC13D):c.2541G>T (p.Lys847Asn) rs2143867438
NM_199242.3(UNC13D):c.2553+6A>T
NM_199242.3(UNC13D):c.2554-10T>C
NM_199242.3(UNC13D):c.2554-11A>G rs886053422
NM_199242.3(UNC13D):c.2565C>G (p.Ile855Met) rs1411846980
NM_199242.3(UNC13D):c.2582G>C (p.Gly861Ala)
NM_199242.3(UNC13D):c.2585G>A (p.Cys862Tyr) rs2064869565
NM_199242.3(UNC13D):c.2590C>G (p.Leu864Val) rs765645010
NM_199242.3(UNC13D):c.277C>A (p.Pro93Thr)
NM_199242.3(UNC13D):c.280GAG[3] (p.Glu95dup) rs772459675
NM_199242.3(UNC13D):c.286C>T (p.His96Tyr)
NM_199242.3(UNC13D):c.288C>G (p.His96Gln)
NM_199242.3(UNC13D):c.2955C>G (p.Phe985Leu) rs2143861441
NM_199242.3(UNC13D):c.2960T>C (p.Val987Ala)
NM_199242.3(UNC13D):c.2963C>T (p.Pro988Leu) rs1458684382
NM_199242.3(UNC13D):c.2965G>A (p.Ala989Thr) rs1177653533
NM_199242.3(UNC13D):c.296C>T (p.Thr99Ile)
NM_199242.3(UNC13D):c.2977C>A (p.Arg993Ser) rs759922688
NM_199242.3(UNC13D):c.2978G>A (p.Arg993His)
NM_199242.3(UNC13D):c.2978G>T (p.Arg993Leu) rs140452589
NM_199242.3(UNC13D):c.3001C>T (p.Leu1001Phe) rs1797449728
NM_199242.3(UNC13D):c.3007G>C (p.Val1003Leu)
NM_199242.3(UNC13D):c.3013G>A (p.Asp1005Asn)
NM_199242.3(UNC13D):c.3019G>A (p.Asp1007Asn)
NM_199242.3(UNC13D):c.302A>G (p.Gln101Arg) rs1280197502
NM_199242.3(UNC13D):c.3032C>A (p.Ala1011Asp)
NM_199242.3(UNC13D):c.3044A>G (p.Glu1015Gly) rs2062141978
NM_199242.3(UNC13D):c.3048C>T (p.Gly1016=) rs111279039
NM_199242.3(UNC13D):c.3049G>A (p.Glu1017Lys)
NM_199242.3(UNC13D):c.3053C>A (p.Ala1018Asp)
NM_199242.3(UNC13D):c.305G>C (p.Arg102Pro)
NM_199242.3(UNC13D):c.3077C>T (p.Pro1026Leu) rs765680080
NM_199242.3(UNC13D):c.3080G>C (p.Gly1027Ala) rs768608291
NM_199242.3(UNC13D):c.3082C>G (p.Leu1028Val) rs2062141511
NM_199242.3(UNC13D):c.30G>T (p.Gln10His) rs1316667053
NM_199242.3(UNC13D):c.3103G>A (p.Gly1035Ser)
NM_199242.3(UNC13D):c.3118A>G (p.Thr1040Ala) rs773314418
NM_199242.3(UNC13D):c.3149A>G (p.Asn1050Ser)
NM_199242.3(UNC13D):c.3170T>C (p.Leu1057Pro)
NM_199242.3(UNC13D):c.3192C>A (p.Asp1064Glu)
NM_199242.3(UNC13D):c.3193C>G (p.Arg1065Gly) rs774921373
NM_199242.3(UNC13D):c.3194G>A (p.Arg1065Gln)
NM_199242.3(UNC13D):c.31C>T (p.Arg11Cys)
NM_199242.3(UNC13D):c.3204G>C (p.Gln1068His)
NM_199242.3(UNC13D):c.321+3A>T rs2143900299
NM_199242.3(UNC13D):c.3215G>C (p.Arg1072Thr)
NM_199242.3(UNC13D):c.3224G>T (p.Arg1075Leu) rs377594755
NM_199242.3(UNC13D):c.3230G>A (p.Arg1077Gln) rs560279707
NM_199242.3(UNC13D):c.3236del (p.Lys1079fs) rs763287992
NM_199242.3(UNC13D):c.323A>G (p.Lys108Arg) rs2064959179
NM_199242.3(UNC13D):c.3254C>A (p.Ala1085Asp)
NM_199242.3(UNC13D):c.3254C>G (p.Ala1085Gly)
NM_199242.3(UNC13D):c.3254C>T (p.Ala1085Val) rs778060284
NM_199242.3(UNC13D):c.3268C>T (p.Pro1090Ser) rs1332768685
NM_199242.3(UNC13D):c.32G>A (p.Arg11His) rs574927621
NM_199242.3(UNC13D):c.388+3G>A
NM_199242.3(UNC13D):c.389-3C>G rs2064957212
NM_199242.3(UNC13D):c.389-55C>T
NM_199242.3(UNC13D):c.389G>A (p.Gly130Glu)
NM_199242.3(UNC13D):c.397G>A (p.Asp133Asn)
NM_199242.3(UNC13D):c.430G>T (p.Val144Leu) rs987855651
NM_199242.3(UNC13D):c.43T>G (p.Leu15Val) rs886053424
NM_199242.3(UNC13D):c.443G>C (p.Gly148Ala) rs551855408
NM_199242.3(UNC13D):c.455G>T (p.Gly152Val) rs774159498
NM_199242.3(UNC13D):c.46C>G (p.Arg16Gly) rs370709761
NM_199242.3(UNC13D):c.491C>T (p.Thr164Ile)
NM_199242.3(UNC13D):c.514C>A (p.Arg172Ser) rs560126604
NM_199242.3(UNC13D):c.515G>C (p.Arg172Pro) rs769659694
NM_199242.3(UNC13D):c.544C>T (p.Pro182Ser) rs1567822165
NM_199242.3(UNC13D):c.553G>A (p.Asp185Asn)
NM_199242.3(UNC13D):c.560C>A (p.Thr187Asn)
NM_199242.3(UNC13D):c.569T>G (p.Leu190Arg)
NM_199242.3(UNC13D):c.577G>A (p.Glu193Lys)
NM_199242.3(UNC13D):c.578A>G (p.Glu193Gly) rs532317198
NM_199242.3(UNC13D):c.580G>A (p.Asp194Asn)
NM_199242.3(UNC13D):c.583A>G (p.Ile195Val)
NM_199242.3(UNC13D):c.615G>C (p.Trp205Cys)
NM_199242.3(UNC13D):c.622G>T (p.Asp208Tyr) rs2143894092
NM_199242.3(UNC13D):c.629T>G (p.Val210Gly) rs553365957
NM_199242.3(UNC13D):c.631G>A (p.Glu211Lys)
NM_199242.3(UNC13D):c.634_657del (p.Ser212_Glu219del) rs752263804
NM_199242.3(UNC13D):c.662C>T (p.Thr221Met)
NM_199242.3(UNC13D):c.683+12A>C rs2064942107
NM_199242.3(UNC13D):c.683+4C>G
NM_199242.3(UNC13D):c.683+4C>T rs374832914
NM_199242.3(UNC13D):c.683+5G>A
NM_199242.3(UNC13D):c.683+5G>T rs554536271
NM_199242.3(UNC13D):c.684-19G>A rs1472770205
NM_199242.3(UNC13D):c.684-3C>T
NM_199242.3(UNC13D):c.68G>A (p.Arg23His)
NM_199242.3(UNC13D):c.68G>T (p.Arg23Leu)
NM_199242.3(UNC13D):c.694G>C (p.Glu232Gln) rs2064940709
NM_199242.3(UNC13D):c.704A>G (p.Lys235Arg) rs548198637
NM_199242.3(UNC13D):c.70C>G (p.Arg24Gly) rs749234163
NM_199242.3(UNC13D):c.736G>A (p.Val246Met)
NM_199242.3(UNC13D):c.745A>G (p.Arg249Gly)
NM_199242.3(UNC13D):c.746G>A (p.Arg249Lys)
NM_199242.3(UNC13D):c.74G>C (p.Arg25Thr) rs1013790378
NM_199242.3(UNC13D):c.761G>A (p.Arg254His)
NM_199242.3(UNC13D):c.761G>T (p.Arg254Leu) rs774176637
NM_199242.3(UNC13D):c.766C>G (p.Arg256Gly) rs121434352
NM_199242.3(UNC13D):c.775C>G (p.Gln259Glu) rs2064938758
NM_199242.3(UNC13D):c.780G>C (p.Trp260Cys) rs769371398
NM_199242.3(UNC13D):c.797G>A (p.Arg266His) rs538734085
NM_199242.3(UNC13D):c.814G>A (p.Asp272Asn)
NM_199242.3(UNC13D):c.859-3C>A rs563600513
NM_199242.3(UNC13D):c.877C>T (p.Arg293Cys)
NM_199242.3(UNC13D):c.895A>C (p.Thr299Pro) rs2143891988
NM_199242.3(UNC13D):c.902A>G (p.His301Arg) rs2143891961
NM_199242.3(UNC13D):c.907C>T (p.His303Tyr) rs2064936586
NM_199242.3(UNC13D):c.91G>A (p.Asp31Asn)
NM_199242.3(UNC13D):c.934G>A (p.Glu312Lys)
NM_199242.3(UNC13D):c.949G>A (p.Glu317Lys) rs777818719
NM_199242.3(UNC13D):c.955G>A (p.Gly319Arg) rs2064935570
NM_199242.3(UNC13D):c.972C>G (p.Asp324Glu) rs368990813
NM_199242.3(UNC13D):c.984T>A (p.Ser328Arg) rs1352553189
NM_199242.3(UNC13D):c.98C>A (p.Pro33Gln)
NM_199242.3(UNC13D):c.98C>T (p.Pro33Leu) rs140437526

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