ClinVar Miner

List of variants in gene UNC13D reported as pathogenic for not provided

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Total variants: 13
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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.753+1G>T rs201908137 0.00003
NM_199242.3(UNC13D):c.551G>A (p.Trp184Ter) rs754292065 0.00002
NM_199242.3(UNC13D):c.1596+1G>C rs933702160 0.00001
NM_199242.3(UNC13D):c.2135_2137del (p.Ile712_Gly713delinsSer) rs1402670923 0.00001
NM_199242.3(UNC13D):c.1366C>T (p.Gln456Ter) rs2064908936
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.762del (p.Cys255fs) rs1381855537
NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter) rs121434352

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