ClinVar Miner

List of variants in gene UNC13D reported as uncertain significance for not provided

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Total variants: 28
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HGVS dbSNP gnomAD frequency
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.3160A>G (p.Ile1054Val) rs150952348 0.00051
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419 0.00040
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.898G>A (p.Val300Met) rs141499220 0.00005
NM_199242.3(UNC13D):c.271G>A (p.Val91Met) rs374308904 0.00002
NM_199242.3(UNC13D):c.755A>T (p.Asp252Val) rs1131691264 0.00002
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.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.1820G>A (p.Arg607Gln)
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro) rs377293829
NM_199242.3(UNC13D):c.3224G>T (p.Arg1075Leu) rs377594755
NM_199242.3(UNC13D):c.753+5G>A rs1463088201
NM_199242.3(UNC13D):c.98C>T (p.Pro33Leu) rs140437526

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