ClinVar Miner

List of variants in gene UNC13D studied for not specified

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Total variants: 87
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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.2599A>G (p.Lys867Glu) rs1135688 0.47045
NM_199242.3(UNC13D):c.388+122C>T rs3744006 0.46505
NM_199242.3(UNC13D):c.117+59C>T rs3744010 0.31218
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.117+30G>A rs3744011 0.10282
NM_199242.3(UNC13D):c.754-31C>T rs7226310 0.09910
NM_199242.3(UNC13D):c.1389+36G>A rs74410877 0.08586
NM_199242.3(UNC13D):c.1390-38T>C rs112501005 0.02851
NM_199242.3(UNC13D):c.1744C>T (p.Leu582=) rs75853379 0.02622
NM_199242.3(UNC13D):c.1977C>T (p.Thr659=) rs2290770 0.02469
NM_199242.3(UNC13D):c.262-17G>A rs142996967 0.01903
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116 0.01644
NM_199242.3(UNC13D):c.951+13T>G rs140758914 0.01637
NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr) rs9904366 0.01403
NM_199242.3(UNC13D):c.3252T>C (p.His1084=) rs61753922 0.01313
NM_199242.3(UNC13D):c.1992+11T>C rs112501965 0.01262
NM_199242.3(UNC13D):c.2298+15C>T rs112341334 0.00741
NM_199242.3(UNC13D):c.753+3G>A rs116229331 0.00627
NM_199242.3(UNC13D):c.1055+47C>T rs185419295 0.00566
NM_199242.3(UNC13D):c.754-49G>A rs201702634 0.00387
NM_199242.3(UNC13D):c.684-31C>T rs114861309 0.00363
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.1056-13C>T rs141030299 0.00169
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.2052C>G (p.Leu684=) rs150861045 0.00070
NM_199242.3(UNC13D):c.3078C>T (p.Pro1026=) rs372034111 0.00056
NM_199242.3(UNC13D):c.3160A>G (p.Ile1054Val) rs150952348 0.00051
NM_199242.3(UNC13D):c.2625+38G>A rs199759320 0.00048
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419 0.00040
NM_199242.3(UNC13D):c.972C>T (p.Asp324=) rs368990813 0.00029
NM_199242.3(UNC13D):c.1759C>T (p.Arg587Cys) rs148574729 0.00021
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.3145C>G (p.Pro1049Ala) rs750743318 0.00019
NM_199242.3(UNC13D):c.1212C>G (p.Thr404=) rs201727463 0.00017
NM_199242.3(UNC13D):c.262-7C>T rs368236546 0.00017
NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln) rs747390615 0.00013
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp) rs140184929 0.00013
NM_199242.3(UNC13D):c.2191G>A (p.Val731Met) rs377549461 0.00012
NM_199242.3(UNC13D):c.1626G>A (p.Thr542=) rs371924071 0.00010
NM_199242.3(UNC13D):c.1934G>A (p.Arg645Gln) rs371162326 0.00009
NM_199242.3(UNC13D):c.2243C>T (p.Ala748Val) rs375724532 0.00008
NM_199242.3(UNC13D):c.273G>A (p.Val91=) rs149494974 0.00007
NM_199242.3(UNC13D):c.3068G>A (p.Arg1023His) rs751157590 0.00006
NM_199242.3(UNC13D):c.32G>C (p.Arg11Pro) rs574927621 0.00006
NM_199242.3(UNC13D):c.898G>A (p.Val300Met) rs141499220 0.00005
NM_199242.3(UNC13D):c.1279C>T (p.Arg427Trp) rs779947557 0.00004
NM_199242.3(UNC13D):c.2111A>G (p.Asp704Gly) rs762112010 0.00004
NM_199242.3(UNC13D):c.335G>C (p.Cys112Ser) rs141540493 0.00004
NM_199242.3(UNC13D):c.5C>T (p.Ala2Val) rs752295384 0.00004
NM_199242.3(UNC13D):c.2254C>A (p.Leu752Met) rs756749933 0.00003
NM_199242.3(UNC13D):c.3134C>T (p.Thr1045Met) rs201146973 0.00003
NM_199242.3(UNC13D):c.1056-8C>T rs766550767 0.00002
NM_199242.3(UNC13D):c.1933C>T (p.Arg645Trp) rs768266670 0.00002
NM_199242.3(UNC13D):c.1611G>A (p.Val537=) rs538427767 0.00001
NM_199242.3(UNC13D):c.594G>A (p.Ala198=) rs755967157 0.00001
NM_199242.3(UNC13D):c.869C>T (p.Ser290Leu) rs202020396 0.00001
NM_199242.3(UNC13D):c.1056-89_1056-88insGGTTCTCCACCAGGGGCCCTGGAGGA rs142821095
NM_199242.3(UNC13D):c.1204C>G (p.Leu402Val)
NM_199242.3(UNC13D):c.1447-14C>T
NM_199242.3(UNC13D):c.1454C>T (p.Pro485Leu) rs550974990
NM_199242.3(UNC13D):c.153+67C>T
NM_199242.3(UNC13D):c.1637A>G (p.Asp546Gly)
NM_199242.3(UNC13D):c.1992+6G>A rs2143876724
NM_199242.3(UNC13D):c.2030T>C (p.Ile677Thr)
NM_199242.3(UNC13D):c.2035G>T (p.Ala679Ser) rs1321621237
NM_199242.3(UNC13D):c.2340C>G (p.Gly780=) rs556654678
NM_199242.3(UNC13D):c.2447+144C>T
NM_199242.3(UNC13D):c.2448-8dup rs3217698
NM_199242.3(UNC13D):c.261+26C>G rs3744008
NM_199242.3(UNC13D):c.279C>T (p.Pro93=) rs3744007
NM_199242.3(UNC13D):c.2954+432del
NM_199242.3(UNC13D):c.388+81G>A
NM_199242.3(UNC13D):c.46C>T (p.Arg16Cys)
NM_199242.3(UNC13D):c.545_546delinsTT (p.Pro182Leu) rs2143898743
NM_199242.3(UNC13D):c.570-60T>G rs8067076
NM_199242.3(UNC13D):c.888G>C (p.Pro296=) rs7223416
NM_199242.3(UNC13D):c.891C>G (p.Ser297Arg)

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