List of variants in gene MYOZ2 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser)	rs143345726	0.00058
NM_016599.5(MYOZ2):c.745A>G (p.Thr249Ala)	rs762234986	0.00006
NM_016599.5(MYOZ2):c.674C>T (p.Pro225Leu)	rs200428820	0.00004
NM_016599.5(MYOZ2):c.19A>G (p.Met7Val)	rs746027670	0.00003
NM_016599.5(MYOZ2):c.751G>A (p.Glu251Lys)	rs752275226	0.00003
NM_016599.5(MYOZ2):c.11A>T (p.His4Leu)	rs376901669	0.00001
NM_016599.5(MYOZ2):c.181C>T (p.Arg61Cys)	rs755233280	0.00001
NM_016599.5(MYOZ2):c.343C>T (p.Arg115Ter)	rs374655743	0.00001
NM_016599.5(MYOZ2):c.666T>A (p.Phe222Leu)	rs201971682	0.00001
NM_016599.5(MYOZ2):c.*1262del	rs533440962
NM_016599.5(MYOZ2):c.*1262dup	rs533440962
NM_016599.5(MYOZ2):c.1A>T (p.Met1Leu)	rs368392953
NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg)	rs76757102
NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter)	rs138061447
NM_016599.5(MYOZ2):c.327del (p.Asn110fs)	rs2149223404
NM_016599.5(MYOZ2):c.447A>T (p.Gln149His)	rs200077093
NM_016599.5(MYOZ2):c.772G>C (p.Val258Leu)

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.