ClinVar Miner

List of variants in gene UNC13D reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr) rs9904366 0.01403
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.2341G>A (p.Val781Ile) rs149871493 0.00162
NM_199242.3(UNC13D):c.*621C>T rs181467869 0.00140
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_199242.2(UNC13D):c.-229C>G rs569893312 0.00089
NM_199242.3(UNC13D):c.1772C>T (p.Pro591Leu) rs144852879 0.00073
NM_199242.3(UNC13D):c.1389+12G>A rs199536082 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.3078C>T (p.Pro1026=) rs372034111 0.00056
NM_199242.3(UNC13D):c.2553+5C>G rs201930023 0.00051
NM_199242.3(UNC13D):c.3160A>G (p.Ile1054Val) rs150952348 0.00051
NM_199242.3(UNC13D):c.2368-5C>T rs180768962 0.00045
NM_199242.3(UNC13D):c.1215C>T (p.Tyr405=) rs143184345 0.00034
NM_199242.3(UNC13D):c.444G>A (p.Gly148=) rs373551579 0.00034
NM_199242.3(UNC13D):c.3033C>T (p.Ala1011=) rs144730861 0.00030
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.887C>T (p.Pro296Leu) rs541737648 0.00019
NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln) rs747390615 0.00013
NM_199242.3(UNC13D):c.2242G>A (p.Ala748Thr) rs200980507 0.00011
NM_199242.3(UNC13D):c.3260G>A (p.Arg1087Gln) rs760766927 0.00010
NM_199242.3(UNC13D):c.1934G>A (p.Arg645Gln) rs371162326 0.00009
NM_199242.3(UNC13D):c.2553+12G>A rs560520169 0.00009
NM_199242.3(UNC13D):c.1216G>A (p.Gly406Ser) rs149099554 0.00007
NM_199242.3(UNC13D):c.2241C>T (p.Ser747=) rs372453702 0.00007
NM_199242.3(UNC13D):c.273G>A (p.Val91=) rs149494974 0.00007
NM_199242.3(UNC13D):c.794C>G (p.Pro265Arg) rs200265541 0.00007
NM_199242.3(UNC13D):c.2044C>T (p.Arg682Cys) rs755931780 0.00006
NM_199242.3(UNC13D):c.*317C>T rs767459692 0.00005
NM_199242.3(UNC13D):c.*502C>A rs987164404 0.00005
NM_199242.3(UNC13D):c.1279C>T (p.Arg427Trp) rs779947557 0.00004
NM_199242.3(UNC13D):c.2002C>T (p.Arg668Cys) rs376137910 0.00004
NM_199242.3(UNC13D):c.2149G>A (p.Ala717Thr) rs771145468 0.00004
NM_199242.3(UNC13D):c.2496G>A (p.Ala832=) rs763343306 0.00004
NM_199242.3(UNC13D):c.2554-13A>G rs533490795 0.00004
NM_199242.3(UNC13D):c.3067C>T (p.Arg1023Cys) rs140599939 0.00004
NM_199242.3(UNC13D):c.569+10C>T rs368069154 0.00004
NM_199242.3(UNC13D):c.*3G>A rs531729868 0.00003
NM_199242.3(UNC13D):c.1622C>T (p.Thr541Met) rs3744025 0.00003
NM_199242.3(UNC13D):c.2254C>A (p.Leu752Met) rs756749933 0.00003
NM_199242.3(UNC13D):c.3223C>T (p.Arg1075Trp) rs370710344 0.00003
NM_199242.3(UNC13D):c.1369C>A (p.Leu457Met) rs556930184 0.00002
NM_199242.3(UNC13D):c.1890G>A (p.Ala630=) rs753021453 0.00002
NM_199242.3(UNC13D):c.3229_3235del (p.Arg1077fs) rs766652119 0.00002
NM_199242.2(UNC13D):c.-115C>T rs886053425 0.00001
NM_199242.2(UNC13D):c.-158C>T rs886053426 0.00001
NM_199242.3(UNC13D):c.156G>T (p.Arg52=) rs111728477 0.00001
NM_199242.3(UNC13D):c.2197G>A (p.Glu733Lys) rs1469229658 0.00001
NM_199242.3(UNC13D):c.23C>T (p.Pro8Leu) rs766811197 0.00001
NM_199242.3(UNC13D):c.248G>A (p.Arg83Gln) rs143944122 0.00001
NM_199242.3(UNC13D):c.3079G>A (p.Gly1027Arg) rs776703437 0.00001
NM_199242.3(UNC13D):c.3141C>A (p.Pro1047=) rs866899109 0.00001
NM_199242.3(UNC13D):c.511C>T (p.His171Tyr) rs752856512 0.00001
NM_199242.3(UNC13D):c.929C>T (p.Ser310Phe) rs757125102 0.00001
NM_199242.3(UNC13D):c.977C>T (p.Ser326Leu) rs762385167 0.00001
NM_199242.2(UNC13D):c.-176G>A rs886053427
NM_199242.2(UNC13D):c.-278C>T rs886053428
NM_199242.3(UNC13D):c.*18G>A rs886053421
NM_199242.3(UNC13D):c.*535A>G rs2062131134
NM_199242.3(UNC13D):c.*663C>A rs562884111
NM_199242.3(UNC13D):c.*692C>G rs907700228
NM_199242.3(UNC13D):c.1204C>T (p.Leu402=) rs568125844
NM_199242.3(UNC13D):c.1241G>A (p.Arg414His) rs768171054
NM_199242.3(UNC13D):c.1408T>C (p.Phe470Leu) rs886053423
NM_199242.3(UNC13D):c.147C>G (p.Pro49=) rs749672259
NM_199242.3(UNC13D):c.147C>T (p.Pro49=) rs749672259
NM_199242.3(UNC13D):c.1596+15C>G rs574478720
NM_199242.3(UNC13D):c.1728-13C>T rs745855631
NM_199242.3(UNC13D):c.1758C>T (p.His586=) rs759891490
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro) rs377293829
NM_199242.3(UNC13D):c.197G>T (p.Arg66Leu) rs371943727
NM_199242.3(UNC13D):c.1992+4C>T rs764950480
NM_199242.3(UNC13D):c.2278G>C (p.Val760Leu) rs143264522
NM_199242.3(UNC13D):c.2506C>T (p.Gln836Ter) rs768875290
NM_199242.3(UNC13D):c.2554-11A>G rs886053422
NM_199242.3(UNC13D):c.2963C>T (p.Pro988Leu) rs1458684382
NM_199242.3(UNC13D):c.3080G>C (p.Gly1027Ala) rs768608291
NM_199242.3(UNC13D):c.3230G>A (p.Arg1077Gln) rs560279707
NM_199242.3(UNC13D):c.43T>G (p.Leu15Val) rs886053424
NM_199242.3(UNC13D):c.629T>G (p.Val210Gly) rs553365957
NM_199242.3(UNC13D):c.683+12A>C rs2064942107
NM_199242.3(UNC13D):c.683+4C>T rs374832914

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