ClinVar Miner

List of variants in gene MYT1L reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
GRCh37/hg19 2p25.3(chr2:2033726-2832894)x1
GRCh37/hg19 2p25.3(chr2:2164149-2396499)x1
NM_001303052.2(MYT1L):c.1-1G>T rs2149492081
NM_001303052.2(MYT1L):c.1068del (p.Asn356fs) rs1064793635
NM_001303052.2(MYT1L):c.1174dup (p.Arg392fs)
NM_001303052.2(MYT1L):c.1221_1222delinsT (p.Glu407fs) rs1064793449
NM_001303052.2(MYT1L):c.1516T>C (p.Cys506Arg) rs2052983721
NM_001303052.2(MYT1L):c.1532G>A (p.Cys511Tyr)
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg) rs1275489527
NM_001303052.2(MYT1L):c.1705C>T (p.Arg569Ter) rs886041858
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln) rs878853045
NM_001303052.2(MYT1L):c.1717G>A (p.Gly573Arg) rs1330054460
NM_001303052.2(MYT1L):c.1751del (p.Lys584fs)
NM_001303052.2(MYT1L):c.181del (p.Arg61fs)
NM_001303052.2(MYT1L):c.1968T>G (p.Tyr656Ter)
NM_001303052.2(MYT1L):c.1975C>T (p.Arg659Ter) rs745333246
NM_001303052.2(MYT1L):c.2123dup (p.Ser709fs) rs886041944
NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs) rs1253072668
NM_001303052.2(MYT1L):c.2233G>T (p.Glu745Ter) rs2048962401
NM_001303052.2(MYT1L):c.223C>T (p.Arg75Ter)
NM_001303052.2(MYT1L):c.2412del (p.Met804fs) rs1553297209
NM_001303052.2(MYT1L):c.2450G>A (p.Trp817Ter)
NM_001303052.2(MYT1L):c.2554G>T (p.Glu852Ter) rs1553295440
NM_001303052.2(MYT1L):c.2642+1G>A rs869320675
NM_001303052.2(MYT1L):c.409G>T (p.Glu137Ter)
NM_001303052.2(MYT1L):c.487G>T (p.Glu163Ter) rs886041655
NM_001303052.2(MYT1L):c.505G>A (p.Glu169Lys) rs2056816939
NM_001303052.2(MYT1L):c.52C>T (p.Arg18Ter) rs2060458735
NM_001303052.2(MYT1L):c.606del (p.Lys203fs) rs1553324762

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.