ClinVar Miner

List of variants in gene UNC13D reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 25
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HGVS dbSNP gnomAD frequency
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.2052C>G (p.Leu684=) rs150861045 0.00070
NM_199242.3(UNC13D):c.3078C>T (p.Pro1026=) rs372034111 0.00056
NM_199242.3(UNC13D):c.1818G>A (p.Ala606=) rs200621516 0.00022
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.1014C>T (p.His338=) rs375097777 0.00006
NM_199242.3(UNC13D):c.2219C>T (p.Thr740Met) rs761013333 0.00006
NM_199242.3(UNC13D):c.71G>A (p.Arg24His) rs777619516 0.00006
NM_199242.3(UNC13D):c.551G>A (p.Trp184Ter) rs754292065 0.00002
NM_199242.3(UNC13D):c.1240C>T (p.Arg414Cys) rs750811263 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.640C>T (p.Arg214Ter) rs769243366 0.00001
NM_199242.3(UNC13D):c.3224G>T (p.Arg1075Leu) rs377594755

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