ClinVar Miner

List of variants in gene MYO5B reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001080467.3(MYO5B):c.20A>G (p.Tyr7Cys) rs190674457 0.00708
NM_001080467.3(MYO5B):c.2125G>A (p.Val709Met) rs192207329 0.00175
NM_001080467.3(MYO5B):c.3001A>T (p.Ile1001Phe) rs61737447 0.00139
NM_001080467.3(MYO5B):c.1323-15C>A rs183991942 0.00092
NM_001080467.3(MYO5B):c.2123G>A (p.Arg708Gln) rs201670299 0.00091
NM_001080467.3(MYO5B):c.1950G>A (p.Thr650=) rs180849030 0.00090
NM_001080467.3(MYO5B):c.1492G>A (p.Asp498Asn) rs200175136 0.00081
NM_001080467.3(MYO5B):c.1786A>G (p.Lys596Glu) rs200548362 0.00044
NM_001080467.3(MYO5B):c.3488T>G (p.Leu1163Arg) rs201109748 0.00043
NM_001080467.3(MYO5B):c.3698G>T (p.Ser1233Ile) rs189721715 0.00036
NM_001080467.3(MYO5B):c.926G>A (p.Arg309Gln) rs200142429 0.00030
NM_001080467.3(MYO5B):c.2647C>T (p.Leu883=) rs375746475 0.00024
NM_001080467.3(MYO5B):c.28-6T>C rs373443648 0.00024
NM_001080467.3(MYO5B):c.839-11G>A rs369128969 0.00024
NM_001080467.3(MYO5B):c.3647T>G (p.Leu1216Arg) rs201194311 0.00020
NM_001080467.3(MYO5B):c.3645C>T (p.Asp1215=) rs200991250 0.00019
NM_001080467.3(MYO5B):c.2947G>C (p.Glu983Gln) rs371584389 0.00014
NM_001080467.3(MYO5B):c.891G>A (p.Glu297=) rs372125377 0.00014
NM_001080467.3(MYO5B):c.2731C>T (p.Arg911Cys) rs370548179 0.00013
NM_001080467.3(MYO5B):c.2590G>A (p.Ala864Thr) rs372432070 0.00012
NM_001080467.3(MYO5B):c.378C>T (p.Thr126=) rs201531684 0.00011
NM_001080467.3(MYO5B):c.2043C>T (p.Cys681=) rs2969930 0.00009
NM_001080467.3(MYO5B):c.576C>T (p.Ile192=) rs369744590 0.00009
NM_001080467.3(MYO5B):c.2644C>T (p.Arg882Trp) rs777961930 0.00007
NM_001080467.3(MYO5B):c.471G>A (p.Gln157=) rs370574448 0.00007
NM_001080467.3(MYO5B):c.1215G>A (p.Ala405=) rs781209064 0.00006
NM_001080467.3(MYO5B):c.1322+12G>A rs202159934 0.00006
NM_001080467.3(MYO5B):c.2327G>A (p.Arg776Gln) rs183277668 0.00006
NM_001080467.3(MYO5B):c.455+8T>C rs373498192 0.00006
NM_001080467.3(MYO5B):c.541G>A (p.Ala181Thr) rs377138861 0.00006
NM_001080467.3(MYO5B):c.2004-6T>C rs2969929 0.00005
NM_001080467.3(MYO5B):c.2090+15C>T rs752349961 0.00005
NM_001080467.3(MYO5B):c.2832T>G (p.Leu944=) rs199588107 0.00005
NM_001080467.3(MYO5B):c.744A>G (p.Arg248=) rs368506553 0.00005
NM_001080467.3(MYO5B):c.807C>T (p.Ala269=) rs370357903 0.00005
NM_001080467.3(MYO5B):c.2572-5G>A rs749018115 0.00004
NM_001080467.3(MYO5B):c.2881C>T (p.Arg961Trp) rs556141097 0.00004
NM_001080467.3(MYO5B):c.3196C>T (p.Arg1066Trp) rs771709366 0.00004
NM_001080467.3(MYO5B):c.3460C>T (p.Arg1154Trp) rs775981130 0.00004
NM_001080467.3(MYO5B):c.159T>C (p.Asp53=) rs751520054 0.00003
NM_001080467.3(MYO5B):c.2223T>G (p.Phe741Leu) rs199963863 0.00003
NM_001080467.3(MYO5B):c.2506C>T (p.Arg836Cys) rs569933953 0.00003
NM_001080467.3(MYO5B):c.3920A>G (p.Tyr1307Cys) rs774837934 0.00003
NM_001080467.3(MYO5B):c.3944+13C>T rs755692896 0.00003
NM_001080467.3(MYO5B):c.946G>A (p.Gly316Arg) rs753558336 0.00003
NM_001080467.3(MYO5B):c.1840G>A (p.Val614Ile) rs191746501 0.00002
NM_001080467.3(MYO5B):c.2407G>A (p.Ala803Thr) rs760481978 0.00002
NM_001080467.3(MYO5B):c.2572-6C>T rs1013131972 0.00002
NM_001080467.3(MYO5B):c.2812-3C>A rs371540311 0.00002
NM_001080467.3(MYO5B):c.1077C>A (p.Ser359Arg) rs755460184 0.00001
NM_001080467.3(MYO5B):c.1287G>A (p.Lys429=) rs776027486 0.00001
NM_001080467.3(MYO5B):c.1302C>T (p.Ile434=) rs776785214 0.00001
NM_001080467.3(MYO5B):c.2326C>T (p.Arg776Trp) rs201966606 0.00001
NM_001080467.3(MYO5B):c.2479A>G (p.Arg827Gly) rs1291391204 0.00001
NM_001080467.3(MYO5B):c.2579T>A (p.Met860Lys) rs539079604 0.00001
NM_001080467.3(MYO5B):c.275G>A (p.Arg92His) rs202205346 0.00001
NM_001080467.3(MYO5B):c.2966G>A (p.Arg989His) rs747276755 0.00001
NM_001080467.3(MYO5B):c.3418G>A (p.Ala1140Thr) rs1364064267 0.00001
NM_001080467.3(MYO5B):c.3892G>T (p.Val1298Phe) rs200181910 0.00001
NM_001080467.3(MYO5B):c.3945-9T>A rs759789311 0.00001
NM_001080467.3(MYO5B):c.4033G>A (p.Ala1345Thr) rs755338257 0.00001
NM_001080467.3(MYO5B):c.4123C>G (p.Gln1375Glu) rs765059688 0.00001
NM_001080467.3(MYO5B):c.4202G>A (p.Arg1401Gln) rs199722479 0.00001
NM_001080467.3(MYO5B):c.648C>T (p.Asn216=) rs779466520 0.00001
NM_001080467.3(MYO5B):c.808G>A (p.Gly270Ser) rs1047868917 0.00001
NM_001080467.3(MYO5B):c.9G>A (p.Val3=) rs538674235 0.00001
NM_001080467.3(MYO5B):c.1027G>A (p.Glu343Lys) rs2025802093
NM_001080467.3(MYO5B):c.1705A>T (p.Arg569Ter) rs1568045080
NM_001080467.3(MYO5B):c.1713G>C (p.Thr571=) rs185840586
NM_001080467.3(MYO5B):c.1753-4C>G rs2025263667
NM_001080467.3(MYO5B):c.1952C>G (p.Thr651Arg) rs886053882
NM_001080467.3(MYO5B):c.2004-11_2004-10del rs771242570
NM_001080467.3(MYO5B):c.2004-11del rs886053881
NM_001080467.3(MYO5B):c.2203-13C>T rs550696496
NM_001080467.3(MYO5B):c.2231C>T (p.Thr744Ile) rs886053880
NM_001080467.3(MYO5B):c.2366G>A (p.Gly789Glu) rs756579504
NM_001080467.3(MYO5B):c.2411G>A (p.Arg804His) rs767203225
NM_001080467.3(MYO5B):c.2588A>G (p.Lys863Arg) rs886053879
NM_001080467.3(MYO5B):c.272T>C (p.Val91Ala) rs1165303022
NM_001080467.3(MYO5B):c.2803G>A (p.Asp935Asn) rs886053878
NM_001080467.3(MYO5B):c.3244G>A (p.Asp1082Asn) rs768704859
NM_001080467.3(MYO5B):c.3297G>T (p.Arg1099=) rs2024544820
NM_001080467.3(MYO5B):c.345G>T (p.Gln115His) rs2026454898
NM_001080467.3(MYO5B):c.3468G>A (p.Leu1156=) rs1193229060
NM_001080467.3(MYO5B):c.3638A>T (p.Lys1213Met) rs201651982
NM_001080467.3(MYO5B):c.3843+9A>T rs780988723
NM_001080467.3(MYO5B):c.3889C>T (p.His1297Tyr) rs886053877
NM_001080467.3(MYO5B):c.3917C>T (p.Ala1306Val) rs886053876
NM_001080467.3(MYO5B):c.558G>A (p.Ser186=) rs577054276
NM_001080467.3(MYO5B):c.638G>A (p.Arg213His) rs557316656
NM_001080467.3(MYO5B):c.996C>T (p.Ile332=) rs16951352

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.