ClinVar Miner

List of variants in gene BUB1B, BUB1B-PAK6 studied for Mosaic variegated aneuploidy syndrome 1

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Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_001211.6(BUB1B):c.3099A>G (p.Lys1033=) rs35611758 0.08840
NM_001211.6(BUB1B):c.2856C>T (p.Asp952=) rs1802286 0.02238
NM_001211.6(BUB1B):c.3011A>G (p.Asn1004Ser) rs34998711 0.00350
NM_001211.6(BUB1B):c.2851-17G>A rs145541980 0.00101
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His) rs34700927 0.00077
NM_001211.6(BUB1B):c.2785G>A (p.Gly929Ser) rs143232848 0.00045
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His) rs28989183 0.00029
NM_001211.6(BUB1B):c.3147T>C (p.Phe1049=) rs376467292 0.00019
NM_001211.6(BUB1B):c.2777C>T (p.Thr926Ile) rs74380950 0.00017
NM_001211.6(BUB1B):c.2762A>T (p.Gln921Leu) rs141119531 0.00014
NM_001211.6(BUB1B):c.2805C>G (p.Ile935Met) rs550832943 0.00008
NM_001211.6(BUB1B):c.2857C>T (p.Leu953=) rs1055481142 0.00008
NM_001211.6(BUB1B):c.3028T>C (p.Ser1010Pro) rs374968269 0.00006
NM_001211.6(BUB1B):c.2995C>T (p.Arg999Trp) rs201246315 0.00005
NM_001211.6(BUB1B):c.2866A>G (p.Ile956Val) rs775844666 0.00004
NM_001211.6(BUB1B):c.2994G>A (p.Val998=) rs771453874 0.00004
NM_001211.6(BUB1B):c.2996G>A (p.Arg999Gln) rs377612791 0.00004
NM_001211.6(BUB1B):c.2686G>A (p.Asp896Asn) rs778645750 0.00003
NM_001211.6(BUB1B):c.2817A>G (p.Gln939=) rs777802023 0.00003
NM_001211.6(BUB1B):c.2760G>C (p.Val920=) rs151035388 0.00002
NM_001211.6(BUB1B):c.2810A>G (p.Glu937Gly) rs755941900 0.00002
NM_001211.6(BUB1B):c.2958-10A>G rs759331631 0.00002
NM_001211.6(BUB1B):c.3020C>G (p.Ala1007Gly) rs370506288 0.00002
NM_001211.6(BUB1B):c.3074C>T (p.Thr1025Ile) rs770219125 0.00002
NM_001211.6(BUB1B):c.3082C>G (p.Gln1028Glu) rs2037890025 0.00002
NM_001211.6(BUB1B):c.3113T>C (p.Val1038Ala) rs776542291 0.00002
NM_001211.6(BUB1B):c.2693A>G (p.Tyr898Cys) rs757927200 0.00001
NM_001211.6(BUB1B):c.2752C>G (p.Leu918Val) rs145639700 0.00001
NM_001211.6(BUB1B):c.2783G>C (p.Ser928Thr) rs950826338 0.00001
NM_001211.6(BUB1B):c.2784C>T (p.Ser928=) rs139066741 0.00001
NM_001211.6(BUB1B):c.2792G>A (p.Arg931Gln) rs751509832 0.00001
NM_001211.6(BUB1B):c.2801A>G (p.Gln934Arg) rs781299320 0.00001
NM_001211.6(BUB1B):c.2849A>G (p.Gln950Arg) rs772525026 0.00001
NM_001211.6(BUB1B):c.2889A>G (p.Leu963=) rs768869879 0.00001
NM_001211.6(BUB1B):c.2933G>T (p.Trp978Leu) rs1191638586 0.00001
NM_001211.6(BUB1B):c.2957+16T>C rs767194740 0.00001
NM_001211.6(BUB1B):c.2957+17G>A rs752575105 0.00001
NM_001211.6(BUB1B):c.2979G>T (p.Trp993Cys) rs1060499945 0.00001
NM_001211.6(BUB1B):c.3022A>G (p.Thr1008Ala) rs750610809 0.00001
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro) rs28989185 0.00001
NM_001211.6(BUB1B):c.3049G>A (p.Ala1017Thr) rs748723428 0.00001
NM_001211.6(BUB1B):c.3076A>G (p.Thr1026Ala) rs771709698 0.00001
NM_001211.6(BUB1B):c.3105A>G (p.Leu1035=) rs576684184 0.00001
NM_001211.6(BUB1B):c.3146T>C (p.Phe1049Ser) rs751744682 0.00001
NM_001211.6(BUB1B):c.2679A>G (p.Arg893=) rs2140911352
NM_001211.6(BUB1B):c.2681T>A (p.Ile894Asn)
NM_001211.6(BUB1B):c.2685C>T (p.His895=)
NM_001211.6(BUB1B):c.2703C>T (p.Asn901=)
NM_001211.6(BUB1B):c.2706G>C (p.Lys902Asn)
NM_001211.6(BUB1B):c.2708A>G (p.Asn903Ser)
NM_001211.6(BUB1B):c.2729T>A (p.Val910Glu) rs747000103
NM_001211.6(BUB1B):c.2737T>G (p.Ser913Ala)
NM_001211.6(BUB1B):c.2745T>A (p.Ser915Arg) rs2037812878
NM_001211.6(BUB1B):c.2752C>T (p.Leu918Phe) rs145639700
NM_001211.6(BUB1B):c.2759T>G (p.Val920Gly)
NM_001211.6(BUB1B):c.2764C>T (p.Leu922=)
NM_001211.6(BUB1B):c.2791C>T (p.Arg931Trp) rs766052877
NM_001211.6(BUB1B):c.2792G>C (p.Arg931Pro) rs751509832
NM_001211.6(BUB1B):c.2799A>G (p.Val933=) rs755014372
NM_001211.6(BUB1B):c.2804T>C (p.Ile935Thr)
NM_001211.6(BUB1B):c.2807T>C (p.Leu936Pro) rs964545269
NM_001211.6(BUB1B):c.2816A>C (p.Gln939Pro)
NM_001211.6(BUB1B):c.2820G>A (p.Lys940=)
NM_001211.6(BUB1B):c.2820G>C (p.Lys940Asn)
NM_001211.6(BUB1B):c.2820G>T (p.Lys940Asn)
NM_001211.6(BUB1B):c.2827G>A (p.Ala943Thr)
NM_001211.6(BUB1B):c.2828C>G (p.Ala943Gly)
NM_001211.6(BUB1B):c.2828C>T (p.Ala943Val)
NM_001211.6(BUB1B):c.2829T>C (p.Ala943=)
NM_001211.6(BUB1B):c.2834G>A (p.Cys945Tyr) rs974385539
NM_001211.6(BUB1B):c.2843C>T (p.Pro948Leu)
NM_001211.6(BUB1B):c.2848C>T (p.Gln950Ter)
NM_001211.6(BUB1B):c.2850+18C>T
NM_001211.6(BUB1B):c.2850+9A>G rs760887408
NM_001211.6(BUB1B):c.2850G>A (p.Gln950=)
NM_001211.6(BUB1B):c.2851-14T>C
NM_001211.6(BUB1B):c.2851-16C>T rs1173983809
NM_001211.6(BUB1B):c.2851-1G>C rs1566830754
NM_001211.6(BUB1B):c.2851-5T>C
NM_001211.6(BUB1B):c.2854G>C (p.Asp952His) rs2140912289
NM_001211.6(BUB1B):c.2862T>C (p.Phe954=) rs2140912298
NM_001211.6(BUB1B):c.2870C>G (p.Ala957Gly)
NM_001211.6(BUB1B):c.2876T>G (p.Leu959Ter) rs2140912326
NM_001211.6(BUB1B):c.2885T>C (p.Leu962Ser)
NM_001211.6(BUB1B):c.2891T>C (p.Leu964Ser)
NM_001211.6(BUB1B):c.2896A>T (p.Lys966Ter)
NM_001211.6(BUB1B):c.2897A>G (p.Lys966Arg) rs2037833828
NM_001211.6(BUB1B):c.2901A>T (p.Glu967Asp) rs762290287
NM_001211.6(BUB1B):c.2902C>T (p.His968Tyr)
NM_001211.6(BUB1B):c.2904C>A (p.His968Gln) rs1284860869
NM_001211.6(BUB1B):c.2910G>T (p.Gln970His)
NM_001211.6(BUB1B):c.2921A>C (p.Asp974Ala)
NM_001211.6(BUB1B):c.2931C>T (p.Phe977=)
NM_001211.6(BUB1B):c.2933G>A (p.Trp978Ter) rs1191638586
NM_001211.6(BUB1B):c.2957+19C>T
NM_001211.6(BUB1B):c.2957+1G>A rs1595540180
NM_001211.6(BUB1B):c.2957+5G>A
NM_001211.6(BUB1B):c.2957+8T>C rs2037835582
NM_001211.6(BUB1B):c.2958-13T>A
NM_001211.6(BUB1B):c.2958-13dup rs1170160550
NM_001211.6(BUB1B):c.2962A>G (p.Lys988Glu) rs2140914660
NM_001211.6(BUB1B):c.2973A>G (p.Glu991=)
NM_001211.6(BUB1B):c.2984A>C (p.Lys995Thr)
NM_001211.6(BUB1B):c.2988C>T (p.Phe996=)
NM_001211.6(BUB1B):c.2997G>A (p.Arg999=) rs2140914718
NM_001211.6(BUB1B):c.3013G>C (p.Asp1005His)
NM_001211.6(BUB1B):c.3015T>G (p.Asp1005Glu)
NM_001211.6(BUB1B):c.3024A>G (p.Thr1008=) rs2140914771
NM_001211.6(BUB1B):c.3029C>G (p.Ser1010Cys)
NM_001211.6(BUB1B):c.3045T>C (p.Leu1015=)
NM_001211.6(BUB1B):c.3055A>G (p.Met1019Val) rs1566831785
NM_001211.6(BUB1B):c.3059A>G (p.Asn1020Ser)
NM_001211.6(BUB1B):c.3062G>C (p.Gly1021Ala)
NM_001211.6(BUB1B):c.3063G>A (p.Gly1021=)
NM_001211.6(BUB1B):c.3067T>G (p.Phe1023Val) rs1566831798
NM_001211.6(BUB1B):c.3074C>A (p.Thr1025Asn) rs770219125
NM_001211.6(BUB1B):c.3084A>G (p.Gln1028=) rs1566831810
NM_001211.6(BUB1B):c.3105A>C (p.Leu1035Phe) rs576684184
NM_001211.6(BUB1B):c.3107G>T (p.Trp1036Leu)
NM_001211.6(BUB1B):c.3124A>G (p.Thr1042Ala) rs761776038
NM_001211.6(BUB1B):c.3133G>C (p.Gly1045Arg) rs2140914939
NM_001211.6(BUB1B):c.3136G>C (p.Ala1046Pro)
NM_001211.6(BUB1B):c.3149A>G (p.Gln1050Arg)

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