ClinVar Miner

List of variants in gene MYO15A reported as pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456 0.00006
NM_016239.4(MYO15A):c.8767C>T (p.Arg2923Ter) rs373462792 0.00005
NM_016239.4(MYO15A):c.2311del (p.Ser771fs) rs754865266 0.00002
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter) rs748868741 0.00002
NM_016239.4(MYO15A):c.10018C>T (p.Gln3340Ter) rs1209867958 0.00001
NM_016239.4(MYO15A):c.2419C>T (p.Gln807Ter) rs1233145763 0.00001
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter) rs781546107 0.00001
NM_016239.4(MYO15A):c.3756+1G>A rs748108031 0.00001
NM_016239.4(MYO15A):c.4602_4603del (p.Met1535fs) rs1287957722 0.00001
NM_016239.4(MYO15A):c.7654+1G>C rs1338603862 0.00001
NM_016239.4(MYO15A):c.8019del (p.His2674fs) rs1182951086 0.00001
NM_016239.4(MYO15A):c.8065del (p.Trp2689fs) rs755180092 0.00001
NM_016239.4(MYO15A):c.8968-1G>T rs746051220 0.00001
NM_016239.4(MYO15A):c.9765_9766insGG (p.Ile3256fs) rs757070287 0.00001
NM_016239.4(MYO15A):c.1795_1798dup (p.Pro600fs) rs1597753664
NM_016239.4(MYO15A):c.2456C>A (p.Ser819Ter) rs767378045
NM_016239.4(MYO15A):c.3311dup (p.Gly1104_Glu1105insTer) rs794729637
NM_016239.4(MYO15A):c.4032+1G>A rs1064795282
NM_016239.4(MYO15A):c.4176C>A (p.Tyr1392Ter) rs1199192203
NM_016239.4(MYO15A):c.4519C>T (p.Arg1507Ter) rs549138385
NM_016239.4(MYO15A):c.4581del (p.Thr1528fs) rs1597784648
NM_016239.4(MYO15A):c.4655+1G>A
NM_016239.4(MYO15A):c.5305_5306dup (p.Val1770fs) rs1555544187
NM_016239.4(MYO15A):c.7006dup (p.Gln2336fs) rs397517286
NM_016239.4(MYO15A):c.7012C>T (p.Gln2338Ter) rs1567650971
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs) rs780170125
NM_016239.4(MYO15A):c.7184_7185del (p.Leu2394_Phe2395insTer) rs1415858976
NM_016239.4(MYO15A):c.7226del (p.Pro2409fs) rs727503315
NM_016239.4(MYO15A):c.7623_7624insA (p.Leu2542fs)
NM_016239.4(MYO15A):c.9538_9539del (p.Gln3180fs) rs1555547524
NM_016239.4(MYO15A):c.9691-2A>C
NM_016239.4(MYO15A):c.9876G>A (p.Trp3292Ter) rs779093807

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.