ClinVar Miner

List of variants reported as benign for Familial hemophagocytic lymphohistiocytosis 3

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Total variants: 73
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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.117+59C>T rs3744010 0.31218
NM_199242.3(UNC13D):c.154-19G>A rs3744009 0.24392
NM_199242.3(UNC13D):c.2830+37C>G rs2290769 0.19638
NM_199242.3(UNC13D):c.1992+5G>A rs17581728 0.19407
NM_199242.3(UNC13D):c.*326C>T rs9916685 0.08635
NM_199242.3(UNC13D):c.1389+36G>A rs74410877 0.08586
NM_199242.3(UNC13D):c.2943G>A (p.Glu981=) rs35628234 0.07237
NM_199242.2(UNC13D):c.-149G>A rs3744012 0.07109
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_199242.2(UNC13D):c.-250C>T rs57161046 0.02092
NM_199242.3(UNC13D):c.262-17G>A rs142996967 0.01903
NM_199242.2(UNC13D):c.-260C>T rs113482537 0.01892
NM_199242.3(UNC13D):c.2782C>T (p.Arg928Cys) rs35037984 0.01713
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_199242.2(UNC13D):c.-356C>T rs936397 0.01129
NM_199242.3(UNC13D):c.904C>T (p.Leu302Phe) rs55661958 0.01066
NM_199242.3(UNC13D):c.*658G>A rs115709152 0.01012
NM_199242.2(UNC13D):c.-180C>T rs149878313 0.00936
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.569+19G>A rs61753875 0.00381
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met) rs113861754 0.00355
NM_199242.3(UNC13D):c.2554-16C>T rs184354110 0.00346
NM_199242.3(UNC13D):c.2091+16G>T rs10401023 0.00202
NM_199242.3(UNC13D):c.2831-20A>T rs149809768 0.00199
NM_199242.3(UNC13D):c.2955-14G>C rs138462345 0.00196
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.567C>A (p.Ile189=) rs147903551 0.00134
NM_199242.3(UNC13D):c.547G>A (p.Val183Ile) rs141692294 0.00115
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432 0.00105
NM_199242.3(UNC13D):c.2625+19C>T rs188535511 0.00104
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.1389+12G>A rs199536082 0.00070
NM_199242.3(UNC13D):c.2052C>G (p.Leu684=) rs150861045 0.00070
NM_199242.3(UNC13D):c.858+12A>C rs191712530 0.00063
NM_199242.3(UNC13D):c.1174-15C>G rs374069629 0.00059
NM_199242.3(UNC13D):c.2710-8C>G rs545824447 0.00057
NM_199242.3(UNC13D):c.3078C>T (p.Pro1026=) rs372034111 0.00056
NM_199242.3(UNC13D):c.2553+5C>G rs201930023 0.00051
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419 0.00040
NM_199242.3(UNC13D):c.1215C>T (p.Tyr405=) rs143184345 0.00034
NM_199242.3(UNC13D):c.3033C>T (p.Ala1011=) rs144730861 0.00030
NM_199242.3(UNC13D):c.2447+19C>T rs775204018 0.00023
NM_199242.3(UNC13D):c.811C>T (p.Pro271Ser) rs139564938 0.00020
NM_199242.3(UNC13D):c.261+8C>T rs573508258 0.00014
NM_199242.3(UNC13D):c.2709+6G>T rs199529082 0.00014
NM_199242.3(UNC13D):c.154-8T>A rs369433391 0.00009
NM_199242.3(UNC13D):c.2499C>T (p.Ala833=) rs200014965 0.00006
NM_199242.3(UNC13D):c.570-18G>A rs200526730 0.00005
NM_199242.3(UNC13D):c.2554-13A>G rs533490795 0.00004
NM_199242.3(UNC13D):c.569+10C>T rs368069154 0.00004
NM_199242.3(UNC13D):c.3270G>A (p.Pro1090=) rs545430645 0.00003
NM_199242.3(UNC13D):c.1611G>A (p.Val537=) rs538427767 0.00001
NM_199242.3(UNC13D):c.113C>G (p.Pro38Arg) rs202020609
NM_199242.3(UNC13D):c.1204C>T (p.Leu402=) rs568125844
NM_199242.3(UNC13D):c.1447-17C>T rs375860793
NM_199242.3(UNC13D):c.1728-13C>T rs745855631
NM_199242.3(UNC13D):c.2448-8dup rs3217698
NM_199242.3(UNC13D):c.279C>T (p.Pro93=) rs3744007
NM_199242.3(UNC13D):c.2896C>T (p.Arg966Trp) rs118049905
NM_199242.3(UNC13D):c.3152-19del
NM_199242.3(UNC13D):c.388+8T>C
NM_199242.3(UNC13D):c.389-13del
NM_199242.3(UNC13D):c.888G>C (p.Pro296=) rs7223416

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