ClinVar Miner

List of variants studied for Myofibrillar myopathy 4 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007078.3(LDB3):c.-24+8T>C rs2803558 0.72185
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_007078.3(LDB3):c.896+6959C>T rs139415121 0.00968
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_007078.3(LDB3):c.-23-32C>A rs34972863 0.00282
NM_007078.3(LDB3):c.897-6834C>T rs185972751 0.00101
NM_007078.3(LDB3):c.897-6700G>A rs560431536 0.00018
NM_007078.3(LDB3):c.-24+41G>A rs45578532 0.00016
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr) rs373632943 0.00015
NM_007078.3(LDB3):c.690-4619G>T rs761090088 0.00006
NM_007078.3(LDB3):c.897-6745C>T rs746256049 0.00006
NM_007078.3(LDB3):c.897-6665C>T rs549156118 0.00005
NM_007078.3(LDB3):c.689+3861C>T rs754704023 0.00004
NM_007078.3(LDB3):c.690-4617G>A rs754174632 0.00004
NM_007078.3(LDB3):c.897-6692C>T rs1286351667 0.00004
NM_007078.3(LDB3):c.897-6664G>A rs376355443 0.00003
NM_007078.3(LDB3):c.897-6909G>A rs532856980 0.00003
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_007078.3(LDB3):c.818G>A (p.Arg273His) rs763481542 0.00002
NM_007078.3(LDB3):c.897-6831C>T rs886047355 0.00002
NM_007078.3(LDB3):c.30C>G (p.Pro10=) rs766817285 0.00001
NM_007078.3(LDB3):c.723C>T (p.Ser241=) rs200580597 0.00001
NM_007078.3(LDB3):c.897-6719C>T rs975012427 0.00001
NM_007078.3(LDB3):c.897-6861G>A rs1458669091 0.00001
NM_001368067.1(LDB3):c.456G>T (p.Ala152=) rs371708921
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_007078.3(LDB3):c.690-4618C>A rs764620834
NM_007078.3(LDB3):c.896+6695T>C rs1846150336
NM_007078.3(LDB3):c.896+6814G>A rs1846157787
NM_007078.3(LDB3):c.896+6872G>A rs1037329839
NM_007078.3(LDB3):c.896+6957G>A rs886047354
NM_007078.3(LDB3):c.897-6525T>C rs886047356
NM_007078.3(LDB3):c.897-6702C>G rs1188752285
NM_007078.3(LDB3):c.897-6707G>A rs537660741

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.