List of variants in gene MHRT, MYH7 studied for congenital myopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 31

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=)	rs2754155	0.00831
NM_000257.4(MYH7):c.4520-25C>T	rs45503601	0.00787
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)	rs201307101	0.00024
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys)	rs139646545	0.00009
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=)	rs45560242	0.00008
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)	rs727503244	0.00006
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile)	rs144200285	0.00005
NM_000257.4(MYH7):c.4519+6C>T	rs370779504	0.00005
NM_000257.4(MYH7):c.4410G>A (p.Ser1470=)	rs578166720	0.00004
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=)	rs150552664	0.00002
NM_000257.4(MYH7):c.4641C>T (p.Ala1547=)	rs376854724	0.00002
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser)	rs745414245	0.00001
NM_000257.4(MYH7):c.4353+20C>T	rs199912646	0.00001
NM_000257.4(MYH7):c.4440G>T (p.Glu1480Asp)	rs1351661186	0.00001
NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu)	rs397516221	0.00001
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)	rs397516225	0.00001
NM_000257.3(MYH7):c.4522_4524del	rs397516220
NM_000257.4(MYH7):c.4285_4287del (p.Met1429del)	rs1892274161
NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)
NM_000257.4(MYH7):c.4358T>C (p.Leu1453Pro)	rs1246272841
NM_000257.4(MYH7):c.4395G>A (p.Ser1465=)	rs397516213
NM_000257.4(MYH7):c.4442T>C (p.Leu1481Pro)	rs587779414
NM_000257.4(MYH7):c.4451T>C (p.Leu1484Pro)	rs1595074765
NM_000257.4(MYH7):c.4461C>G (p.Ala1487=)	rs2138645345
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp)	rs45544633
NM_000257.4(MYH7):c.4499G>C (p.Arg1500Pro)	rs121913647
NM_000257.4(MYH7):c.4567A>G (p.Ile1523Val)	rs1555336580
NM_000257.4(MYH7):c.4622A>C (p.Gln1541Pro)	rs587779389
NM_000257.4(MYH7):c.4631T>C (p.Leu1544Pro)	rs1892234748
NM_000257.4(MYH7):c.4643A>T (p.Glu1548Val)	rs730880804
NM_000257.4(MYH7):c.4644+5G>C	rs730880797

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.