List of variants in gene MAP2K1 reported as likely pathogenic for cardiomyopathy

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: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002755.4(MAP2K1):c.427A>G (p.Met143Val)	rs533695080	0.00001
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe)	rs397516789
NM_002755.4(MAP2K1):c.137A>T (p.Gln46Leu)	rs1595860875
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln)	rs397516790
NM_002755.4(MAP2K1):c.265C>A (p.Pro89Thr)	rs1265809314
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)	rs397516791
NM_002755.4(MAP2K1):c.308T>C (p.Ile103Thr)
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu)	rs727504819
NM_002755.4(MAP2K1):c.343C>G (p.Leu115Val)	rs1428775799
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)	rs876657651
NM_002755.4(MAP2K1):c.370C>G (p.Pro124Ala)	rs1057519732
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser)	rs1057519732
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu)	rs397516792
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val)	rs121908596
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His)	rs397516793
NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys)	rs1057519733
NM_002755.4(MAP2K1):c.608A>C (p.Glu203Ala)
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly)	rs727503996
NM_002755.4(MAP2K1):c.767T>C (p.Met256Thr)

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.