List of variants in gene MYH7 reported as uncertain significance by Blueprint 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: 33

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.5786C>T (p.Thr1929Met)	rs730880918	0.00010
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)	rs372731424	0.00010
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val)	rs397516138	0.00004
NM_000257.4(MYH7):c.2822G>A (p.Arg941His)	rs765458590	0.00004
NM_000257.4(MYH7):c.161G>A (p.Arg54Gln)	rs397516117	0.00003
NM_000257.4(MYH7):c.1632C>T (p.Thr544=)	rs587781089	0.00003
NM_000257.4(MYH7):c.1193G>A (p.Gly398Glu)	rs730880158	0.00002
NM_000257.4(MYH7):c.29G>C (p.Gly10Ala)	rs730880826	0.00002
NM_000257.4(MYH7):c.3853+1G>A	rs202031879	0.00002
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met)	rs372381770	0.00002
NM_000257.4(MYH7):c.733-3C>T	rs765068619	0.00002
NM_000257.4(MYH7):c.1315A>T (p.Met439Leu)	rs370310929	0.00001
NM_000257.4(MYH7):c.1699C>T (p.Arg567Cys)	rs771771163	0.00001
NM_000257.4(MYH7):c.1772T>C (p.Ile591Thr)	rs775089432	0.00001
NM_000257.4(MYH7):c.2765T>C (p.Met922Thr)	rs771599539	0.00001
NM_000257.4(MYH7):c.3245+3A>T	rs727505355	0.00001
NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln)	rs397516195	0.00001
NM_000257.4(MYH7):c.532G>A (p.Gly178Arg)	rs730880156	0.00001
NM_000257.4(MYH7):c.1164G>A (p.Met388Ile)	rs1595087168
NM_000257.4(MYH7):c.1258G>A (p.Val420Met)	rs1595086916
NM_000257.4(MYH7):c.1396G>A (p.Glu466Lys)	rs4981473
NM_000257.4(MYH7):c.1820G>A (p.Gly607Asp)	rs869025479
NM_000257.4(MYH7):c.1884delinsAC (p.Asp628fs)	rs1595085190
NM_000257.4(MYH7):c.3404T>G (p.Leu1135Arg)	rs1195446785
NM_000257.4(MYH7):c.3830G>C (p.Arg1277Pro)	rs397516195
NM_000257.4(MYH7):c.3834C>T (p.Ala1278=)	rs1595077560
NM_000257.4(MYH7):c.3929A>C (p.Gln1310Pro)	rs869025481
NM_000257.4(MYH7):c.475G>C (p.Asp159His)	rs730880155
NM_000257.4(MYH7):c.536A>C (p.Glu179Ala)	rs869025476
NM_000257.4(MYH7):c.5482G>A (p.Ala1828Thr)	rs886050415
NM_000257.4(MYH7):c.5603T>C (p.Val1868Ala)	rs1595070738
NM_000257.4(MYH7):c.652G>T (p.Asp218Tyr)	rs1595089520
NM_000257.4(MYH7):c.793A>T (p.Thr265Ser)	rs730880157

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.