ClinVar Miner

List of variants in gene UNC13D studied for not provided

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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_199242.3(UNC13D):c.3198A>G (p.Glu1066=) rs7210574 0.49757
NM_199242.3(UNC13D):c.570-229A>G rs8074963 0.47320
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu) rs1135688 0.47045
NM_199242.3(UNC13D):c.388+122C>T rs3744006 0.46505
NM_199242.3(UNC13D):c.154-19G>A rs3744009 0.24392
NM_199242.3(UNC13D):c.1596+36A>G rs3744026 0.23763
NM_199242.3(UNC13D):c.1728-48T>C rs3744024 0.23380
NM_199242.3(UNC13D):c.1992+5G>A rs17581728 0.19407
NM_199242.3(UNC13D):c.2299-46C>T rs7212635 0.18407
NM_199242.3(UNC13D):c.569+192T>C rs8066943 0.15273
NM_199242.3(UNC13D):c.117+30G>A rs3744011 0.10282
NM_199242.3(UNC13D):c.1977C>T (p.Thr659=) rs2290770 0.02469
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116 0.01644
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.227C>T (p.Thr76Met) rs78028658 0.00153
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.610A>G (p.Met204Val) rs144722609 0.00081
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.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.1228A>C (p.Ile410Leu) rs117221419 0.00040
NM_199242.3(UNC13D):c.1818G>A (p.Ala606=) rs200621516 0.00022
NM_199242.3(UNC13D):c.118-308C>T rs959968589 0.00021
NM_199242.3(UNC13D):c.1759C>T (p.Arg587Cys) rs148574729 0.00021
NM_199242.3(UNC13D):c.1131C>G (p.Ser377Arg) rs142335129 0.00018
NM_199242.3(UNC13D):c.670C>T (p.His224Tyr) rs145607492 0.00014
NM_199242.3(UNC13D):c.2191G>A (p.Val731Met) rs377549461 0.00012
NM_199242.3(UNC13D):c.467G>A (p.Arg156Gln) rs370610759 0.00011
NM_199242.3(UNC13D):c.2243C>T (p.Ala748Val) rs375724532 0.00008
NM_199242.3(UNC13D):c.1014C>T (p.His338=) rs375097777 0.00006
NM_199242.3(UNC13D):c.1389+1G>A rs777759523 0.00006
NM_199242.3(UNC13D):c.898G>A (p.Val300Met) rs141499220 0.00005
NM_199242.3(UNC13D):c.753+1G>T rs201908137 0.00003
NM_199242.3(UNC13D):c.271G>A (p.Val91Met) rs374308904 0.00002
NM_199242.3(UNC13D):c.551G>A (p.Trp184Ter) rs754292065 0.00002
NM_199242.3(UNC13D):c.755A>T (p.Asp252Val) rs1131691264 0.00002
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.2038C>T (p.Arg680Trp) rs200341276 0.00001
NM_199242.3(UNC13D):c.2091+2_2091+3dup rs778809705 0.00001
NM_199242.3(UNC13D):c.2135_2137del (p.Ile712_Gly713delinsSer) rs1402670923 0.00001
NM_199242.3(UNC13D):c.2206C>A (p.Gln736Lys) rs1187815814 0.00001
NM_199242.3(UNC13D):c.248G>A (p.Arg83Gln) rs143944122 0.00001
NM_199242.3(UNC13D):c.3034G>A (p.Asp1012Asn) rs1240859315 0.00001
NM_199242.3(UNC13D):c.47G>A (p.Arg16His) rs149195431 0.00001
NM_199242.3(UNC13D):c.919C>T (p.Gln307Ter) rs747169857 0.00001
NM_199242.3(UNC13D):c.1056-89_1056-88insGGTTCTCCACCAGGGGCCCTGGAGGA rs142821095
NM_199242.3(UNC13D):c.1366C>T (p.Gln456Ter) rs2064908936
NM_199242.3(UNC13D):c.1820G>A (p.Arg607Gln)
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro) rs377293829
NM_199242.3(UNC13D):c.1847A>G (p.Glu616Gly) rs754621494
NM_199242.3(UNC13D):c.2037_2038insG (p.Arg680fs) rs2143876026
NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs) rs764196809
NM_199242.3(UNC13D):c.2477_2480del (p.Leu826fs) rs1446025324
NM_199242.3(UNC13D):c.2490G>A (p.Val830=) rs1599404319
NM_199242.3(UNC13D):c.279C>T (p.Pro93=) rs3744007
NM_199242.3(UNC13D):c.3053C>A (p.Ala1018Asp)
NM_199242.3(UNC13D):c.3224G>T (p.Arg1075Leu) rs377594755
NM_199242.3(UNC13D):c.570-136_570-135del rs34691954
NM_199242.3(UNC13D):c.570-159dup rs34691954
NM_199242.3(UNC13D):c.570-286C>G rs8069459
NM_199242.3(UNC13D):c.570-60T>G rs8067076
NM_199242.3(UNC13D):c.753+5G>A rs1463088201
NM_199242.3(UNC13D):c.762del (p.Cys255fs) rs1381855537
NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter) rs121434352
NM_199242.3(UNC13D):c.79dup (p.Arg27fs) rs1244919509
NM_199242.3(UNC13D):c.869C>A (p.Ser290Ter) rs202020396
NM_199242.3(UNC13D):c.888G>C (p.Pro296=) rs7223416
NM_199242.3(UNC13D):c.98C>T (p.Pro33Leu) rs140437526

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