ClinVar Miner

List of variants in gene combination LOC114827850, MYL2 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000432.4(MYL2):c.49G>A (p.Val17Met) rs730880943 0.00003
NM_000432.4(MYL2):c.-2C>T rs730880938 0.00001
NM_000432.4(MYL2):c.20A>G (p.Lys7Arg) rs1344327792 0.00001
NM_000432.4(MYL2):c.23A>G (p.Lys8Arg) rs886039195 0.00001
NM_000432.4(MYL2):c.-1C>T
NM_000432.4(MYL2):c.3+1G>T rs730880948
NM_000432.4(MYL2):c.40A>C (p.Asn14His)
NM_000432.4(MYL2):c.41A>G (p.Asn14Ser)
NM_000432.4(MYL2):c.47del (p.Asn16fs) rs781431079
NM_000432.4(MYL2):c.4G>A (p.Ala2Thr) rs1060499882
NM_000432.4(MYL2):c.50T>C (p.Val17Ala) rs2136777356
NM_000432.4(MYL2):c.53T>C (p.Phe18Ser) rs730880944
NM_000432.4(MYL2):c.61T>G (p.Phe21Val)
NM_000432.4(MYL2):c.64G>T (p.Glu22Ter) rs104894368
NM_000432.4(MYL2):c.7C>T (p.Pro3Ser)
NM_000432.4(MYL2):c.83_93+1del
NM_000432.4(MYL2):c.93+5G>A rs2071703564

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.