ClinVar Miner

List of variants in gene UNC13D studied for UNC13D-related disorder

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_199242.3(UNC13D):c.904C>T (p.Leu302Phe) rs55661958 0.00985
NM_199242.3(UNC13D):c.753+3G>A rs116229331 0.00586
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met) rs113861754 0.00355
NM_199242.3(UNC13D):c.118-326G>A rs553222141 0.00185
NM_199242.3(UNC13D):c.567C>A (p.Ile189=) rs147903551 0.00131
NM_199242.3(UNC13D):c.117+133C>T rs184676782 0.00121
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 0.00096
NM_199242.3(UNC13D):c.99G>A (p.Pro33=) rs147886860 0.00092
NM_199242.3(UNC13D):c.2553+5C>G rs201930023 0.00066
NM_199242.3(UNC13D):c.154-8T>A rs369433391 0.00054
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.1212C>G (p.Thr404=) rs201727463 0.00017
NM_199242.3(UNC13D):c.1131C>G (p.Ser377Arg) rs142335129 0.00016
NM_199242.3(UNC13D):c.1934G>A (p.Arg645Gln) rs371162326 0.00009
NM_199242.3(UNC13D):c.1014C>T (p.His338=) rs375097777 0.00006
NM_199242.3(UNC13D):c.1156C>T (p.Arg386Trp) rs536336944 0.00005
NM_199242.3(UNC13D):c.2250C>T (p.Ala750=) rs146737486 0.00005
NM_199242.3(UNC13D):c.754-9G>A rs765308578 0.00004
NM_199242.3(UNC13D):c.1447-8C>G rs760322200 0.00003
NM_199242.3(UNC13D):c.2364G>A (p.Glu788=) rs1343492074 0.00002
NM_199242.3(UNC13D):c.271G>A (p.Val91Met) rs374308904 0.00002
NM_199242.3(UNC13D):c.754-8C>T rs201406035 0.00002
NM_199242.3(UNC13D):c.2190C>T (p.Ala730=) rs756842152 0.00001
NM_199242.3(UNC13D):c.2370C>T (p.Ala790=) rs747428323 0.00001
NM_199242.3(UNC13D):c.2554-4C>T rs2545977664 0.00001
NM_199242.3(UNC13D):c.499G>A (p.Glu167Lys) rs753901650 0.00001
NM_199242.3(UNC13D):c.614+1G>T rs866629962 0.00001
NM_199242.3(UNC13D):c.1024A>G (p.Lys342Glu) rs746551714
NM_199242.3(UNC13D):c.118-321C>G rs912956209
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro) rs377293829
NM_199242.3(UNC13D):c.1849-39G>T rs78957207
NM_199242.3(UNC13D):c.2046C>T (p.Arg682=) rs139837456
NM_199242.3(UNC13D):c.2954+431_2954+432del rs140737868
NM_199242.3(UNC13D):c.2954+432del rs140737868
NM_199242.3(UNC13D):c.2955-9T>G rs1238644319
NM_199242.3(UNC13D):c.3147del (p.Asn1050fs) rs1048876742
NM_199242.3(UNC13D):c.3270G>T (p.Pro1090=) rs545430645
NM_199242.3(UNC13D):c.570-9T>A rs2545986072
NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter) rs121434352

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