ClinVar Miner

List of variants in gene combination BUB1B, BUB1B-PAK6 reported as uncertain significance for chromosomal disorder

Included ClinVar conditions (197):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.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.2996G>A (p.Arg999Gln) rs377612791 0.00004
NM_001211.6(BUB1B):c.2810A>G (p.Glu937Gly) rs755941900 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.2792G>A (p.Arg931Gln) rs751509832 0.00001
NM_001211.6(BUB1B):c.2801A>G (p.Gln934Arg) rs781299320 0.00001
NM_001211.6(BUB1B):c.2933G>T (p.Trp978Leu) rs1191638586 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.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.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.2791C>T (p.Arg931Trp) rs766052877
NM_001211.6(BUB1B):c.2792G>C (p.Arg931Pro) rs751509832
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>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.2834G>A (p.Cys945Tyr) rs974385539
NM_001211.6(BUB1B):c.2843C>T (p.Pro948Leu)
NM_001211.6(BUB1B):c.2851-5T>C
NM_001211.6(BUB1B):c.2854G>C (p.Asp952His) rs2140912289
NM_001211.6(BUB1B):c.2870C>G (p.Ala957Gly)
NM_001211.6(BUB1B):c.2885T>C (p.Leu962Ser)
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.2921A>C (p.Asp974Ala)
NM_001211.6(BUB1B):c.2933G>A (p.Trp978Ter) rs1191638586
NM_001211.6(BUB1B):c.2957+1G>A rs1595540180
NM_001211.6(BUB1B):c.2957+5G>A
NM_001211.6(BUB1B):c.2962A>G (p.Lys988Glu) rs2140914660
NM_001211.6(BUB1B):c.3013G>C (p.Asp1005His)
NM_001211.6(BUB1B):c.3015T>G (p.Asp1005Glu)
NM_001211.6(BUB1B):c.3029C>G (p.Ser1010Cys)
NM_001211.6(BUB1B):c.3055A>G (p.Met1019Val) rs1566831785
NM_001211.6(BUB1B):c.3062G>C (p.Gly1021Ala)
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.3149A>G (p.Gln1050Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.