ClinVar Miner

List of variants in gene UNC13D reported as pathogenic

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Gene type:
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Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_199242.3(UNC13D):c.118-308C>T rs959968589 0.00021
NM_199242.3(UNC13D):c.1389+1G>A rs777759523 0.00006
NM_199242.3(UNC13D):c.2258_2259insA (p.His754fs) rs1163596220 0.00003
NM_199242.3(UNC13D):c.753+1G>T rs201908137 0.00003
NM_199242.3(UNC13D):c.322-2A>T rs752651197 0.00002
NM_199242.3(UNC13D):c.551G>A (p.Trp184Ter) rs754292065 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.1240C>T (p.Arg414Cys) rs750811263 0.00001
NM_199242.3(UNC13D):c.1596+1G>C rs933702160 0.00001
NM_199242.3(UNC13D):c.1612C>T (p.Gln538Ter) rs1426054272 0.00001
NM_199242.3(UNC13D):c.1727+1G>A rs754882266 0.00001
NM_199242.3(UNC13D):c.2135_2137del (p.Ile712_Gly713delinsSer) rs1402670923 0.00001
NM_199242.3(UNC13D):c.2212C>T (p.Gln738Ter) rs764507196 0.00001
NM_199242.3(UNC13D):c.520C>T (p.Gln174Ter) rs1157287613 0.00001
NM_199242.3(UNC13D):c.640C>T (p.Arg214Ter) rs769243366 0.00001
NM_199242.3(UNC13D):c.754-1G>C rs753990040 0.00001
NM_199242.3(UNC13D):c.817C>T (p.Arg273Ter) rs201589664 0.00001
NM_199242.3(UNC13D):c.859del (p.Arg287fs) rs2064937140 0.00001
NM_199242.3(UNC13D):c.919C>T (p.Gln307Ter) rs747169857 0.00001
NM_199242.2(UNC13D):c.2258_2267delinsTACCTTGTCCGA (p.Gly753fs) rs1567818219
NM_199242.3(UNC13D):c.1045C>T (p.Gln349Ter)
NM_199242.3(UNC13D):c.1072dup (p.Ser358fs) rs2143883327
NM_199242.3(UNC13D):c.118-307G>A rs1019391145
NM_199242.3(UNC13D):c.1208T>C (p.Leu403Pro) rs121434353
NM_199242.3(UNC13D):c.1215C>G (p.Tyr405Ter) rs143184345
NM_199242.3(UNC13D):c.1241G>T (p.Arg414Leu)
NM_199242.3(UNC13D):c.1246_1258dup (p.Ser420fs)
NM_199242.3(UNC13D):c.1358del (p.Pro453fs)
NM_199242.3(UNC13D):c.1366C>T (p.Gln456Ter) rs2064908936
NM_199242.3(UNC13D):c.1387C>T (p.Gln463Ter)
NM_199242.3(UNC13D):c.1472T>A (p.Leu491Ter) rs1555601754
NM_199242.3(UNC13D):c.1486C>T (p.Gln496Ter)
NM_199242.3(UNC13D):c.148G>T (p.Glu50Ter)
NM_199242.3(UNC13D):c.151C>T (p.Gln51Ter)
NM_199242.3(UNC13D):c.1545-2A>G rs766615729
NM_199242.3(UNC13D):c.1596+1del
NM_199242.3(UNC13D):c.160del (p.Leu54fs)
NM_199242.3(UNC13D):c.1621_1622del (p.Thr541fs)
NM_199242.3(UNC13D):c.1650del (p.Glu551fs) rs1442964152
NM_199242.3(UNC13D):c.1663_1664del (p.Leu556fs)
NM_199242.3(UNC13D):c.169_172del (p.Glu57fs)
NM_199242.3(UNC13D):c.170del (p.Glu57fs)
NM_199242.3(UNC13D):c.1721C>G (p.Ser574Ter)
NM_199242.3(UNC13D):c.1754dup (p.His586fs) rs796065026
NM_199242.3(UNC13D):c.1763G>A (p.Trp588Ter)
NM_199242.3(UNC13D):c.1768C>T (p.Gln590Ter) rs1567818774
NM_199242.3(UNC13D):c.177_178del (p.Tyr61fs) rs1234936765
NM_199242.3(UNC13D):c.1792C>T (p.Gln598Ter) rs1422897832
NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter) rs755348845
NM_199242.3(UNC13D):c.1825C>T (p.Gln609Ter)
NM_199242.3(UNC13D):c.1828_1839del (p.Arg610_Gln613del) rs796065024
NM_199242.3(UNC13D):c.1847A>G (p.Glu616Gly) rs754621494
NM_199242.3(UNC13D):c.1947G>A (p.Trp649Ter) rs868318523
NM_199242.3(UNC13D):c.1953_1959del (p.Asp651fs)
NM_199242.3(UNC13D):c.2037_2038insG (p.Arg680fs) rs2143876026
NM_199242.3(UNC13D):c.203del (p.Gly68fs)
NM_199242.3(UNC13D):c.216del (p.Asn73fs) rs796065025
NM_199242.3(UNC13D):c.2188del (p.Ala730fs)
NM_199242.3(UNC13D):c.2207del (p.Gln736fs)
NM_199242.3(UNC13D):c.2264_2265insCC (p.Glu755fs)
NM_199242.3(UNC13D):c.2267del (p.Ile756fs)
NM_199242.3(UNC13D):c.2293G>T (p.Glu765Ter) rs763117746
NM_199242.3(UNC13D):c.2296C>T (p.Gln766Ter)
NM_199242.3(UNC13D):c.2309del (p.Gly770fs)
NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs) rs764196809
NM_199242.3(UNC13D):c.2381del (p.Leu794fs) rs2064882892
NM_199242.3(UNC13D):c.2434G>T (p.Glu812Ter)
NM_199242.3(UNC13D):c.2448-13G>A rs753762300
NM_199242.3(UNC13D):c.2466del (p.Leu821_Trp822insTer)
NM_199242.3(UNC13D):c.2475_2476dup (p.Leu826fs)
NM_199242.3(UNC13D):c.2477_2480del (p.Leu826fs) rs1446025324
NM_199242.3(UNC13D):c.247C>T (p.Arg83Ter) rs1274685768
NM_199242.3(UNC13D):c.252C>A (p.Tyr84Ter)
NM_199242.3(UNC13D):c.2570T>G (p.Phe857Cys) rs121434354
NM_199242.3(UNC13D):c.3011_3014dup (p.Tyr1006fs) rs1567816070
NM_199242.3(UNC13D):c.3018C>G (p.Tyr1006Ter) rs775862197
NM_199242.3(UNC13D):c.3043del (p.Glu1015fs)
NM_199242.3(UNC13D):c.3049G>A (p.Glu1017Lys)
NM_199242.3(UNC13D):c.3053C>A (p.Ala1018Asp)
NM_199242.3(UNC13D):c.3061_3067del (p.Pro1021fs)
NM_199242.3(UNC13D):c.3151G>A (p.Gly1051Arg) rs1232542382
NM_199242.3(UNC13D):c.3183del (p.Lys1062fs)
NM_199242.3(UNC13D):c.3193C>T (p.Arg1065Ter)
NM_199242.3(UNC13D):c.3194del (p.Arg1065fs)
NM_199242.3(UNC13D):c.408_414del (p.Cys136fs) rs2064957038
NM_199242.3(UNC13D):c.441del (p.Gly149fs)
NM_199242.3(UNC13D):c.49C>T (p.Gln17Ter) rs2064970978
NM_199242.3(UNC13D):c.532del (p.Gln178fs)
NM_199242.3(UNC13D):c.568del (p.Leu190fs)
NM_199242.3(UNC13D):c.570-2A>T rs770325118
NM_199242.3(UNC13D):c.627del (p.Val210fs)
NM_199242.3(UNC13D):c.708del (p.Asp236fs)
NM_199242.3(UNC13D):c.751C>T (p.Gln251Ter) rs2143893153
NM_199242.3(UNC13D):c.753+1G>A
NM_199242.3(UNC13D):c.755_756dup (p.Leu253fs)
NM_199242.3(UNC13D):c.762del (p.Cys255fs) rs1381855537
NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter) rs121434352
NM_199242.3(UNC13D):c.779G>A (p.Trp260Ter) rs943094444
NM_199242.3(UNC13D):c.780G>A (p.Trp260Ter)
NM_199242.3(UNC13D):c.79dup (p.Arg27fs) rs1244919509
NM_199242.3(UNC13D):c.82_83insCTCT (p.Asp28fs) rs2143904721
NM_199242.3(UNC13D):c.865_877dup (p.Arg293fs) rs2064936948
NM_199242.3(UNC13D):c.883C>T (p.Gln295Ter) rs2143892028
NM_199242.3(UNC13D):c.924del (p.Val309fs)
NM_199242.3(UNC13D):c.943C>T (p.Gln315Ter)
NM_199242.3(UNC13D):c.965_968delinsTTCATGCATACACCACATGAAACATCCTATCATCTGTAGGCTCATTCATTTCTCTAACAGCAGTAATA (p.Ser322_Trp323delinsPheHisAlaTyrThrThrTer)
Single allele

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