List of variants in gene combination MHRT, MYH7 reported as likely benign for Hypertrophic 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: 96

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)	rs201307101	0.00024
NM_000257.4(MYH7):c.4353+3G>T	rs767518107	0.00019
NM_000257.4(MYH7):c.4513C>T (p.Leu1505=)	rs139928934	0.00014
NM_000257.4(MYH7):c.4354-6G>A	rs368078397	0.00009
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=)	rs45560242	0.00008
NM_000257.4(MYH7):c.4618C>T (p.Leu1540=)	rs368734580	0.00007
NM_000257.4(MYH7):c.4353+8C>A	rs201253277	0.00006
NM_000257.4(MYH7):c.4290G>T (p.Val1430=)	rs372476972	0.00005
NM_000257.4(MYH7):c.4347C>T (p.Phe1449=)	rs182311329	0.00005
NM_000257.4(MYH7):c.4410G>A (p.Ser1470=)	rs578166720	0.00004
NM_000257.4(MYH7):c.4458C>T (p.Asn1486=)	rs571704020	0.00004
NM_000257.4(MYH7):c.4520-15G>A	rs200886528	0.00004
NM_000257.4(MYH7):c.4605C>T (p.Ala1535=)	rs746261895	0.00004
NM_000257.4(MYH7):c.4354-20T>A	rs1466706878	0.00003
NM_000257.4(MYH7):c.4389G>A (p.Ser1463=)	rs781203524	0.00002
NM_000257.4(MYH7):c.4500G>A (p.Arg1500=)	rs199995198	0.00002
NM_000257.4(MYH7):c.4520-11T>C	rs778736821	0.00002
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.4326G>A (p.Leu1442=)	rs727503243	0.00001
NM_000257.4(MYH7):c.4353+11G>T	rs764167288	0.00001
NM_000257.4(MYH7):c.4353+20C>T	rs199912646	0.00001
NM_000257.4(MYH7):c.4354-16C>T	rs1401010130	0.00001
NM_000257.4(MYH7):c.4512C>T (p.Asn1504=)	rs1219572407	0.00001
NM_000257.4(MYH7):c.4572T>C (p.His1524=)	rs1246893810	0.00001
NM_000257.4(MYH7):c.4584G>A (p.Lys1528=)	rs1892237100	0.00001
NM_000257.4(MYH7):c.4587C>A (p.Val1529=)	rs148054271	0.00001
NM_000257.4(MYH7):c.4590A>G (p.Arg1530=)	rs768723855	0.00001
NM_000257.4(MYH7):c.4644+7G>C	rs1555336564	0.00001
NM_000257.4(MYH7):c.4644+9G>T	rs755707262	0.00001
NM_000257.4(MYH7):c.4275C>A (p.Ile1425=)	rs57680382
NM_000257.4(MYH7):c.4275C>T (p.Ile1425=)	rs57680382
NM_000257.4(MYH7):c.4278G>A (p.Glu1426=)	rs763144369
NM_000257.4(MYH7):c.4302C>T (p.Arg1434=)	rs900405502
NM_000257.4(MYH7):c.4308T>C (p.Asn1436=)	rs1892272545
NM_000257.4(MYH7):c.4311T>G (p.Ala1437=)
NM_000257.4(MYH7):c.4314T>C (p.Ala1438=)	rs1595075231
NM_000257.4(MYH7):c.4317T>C (p.Ala1439=)
NM_000257.4(MYH7):c.4320A>C (p.Ala1440=)
NM_000257.4(MYH7):c.4320A>G (p.Ala1440=)
NM_000257.4(MYH7):c.4323C>A (p.Ala1441=)	rs778364300
NM_000257.4(MYH7):c.4326G>C (p.Leu1442=)
NM_000257.4(MYH7):c.4332G>A (p.Lys1444=)	rs1064797183
NM_000257.4(MYH7):c.4335G>A (p.Lys1445=)	rs1892271096
NM_000257.4(MYH7):c.4353+12G>A
NM_000257.4(MYH7):c.4353+16G>A
NM_000257.4(MYH7):c.4353+18G>T	rs2854800
NM_000257.4(MYH7):c.4353+20_4353+29del
NM_000257.4(MYH7):c.4353+20del
NM_000257.4(MYH7):c.4353+7C>T
NM_000257.4(MYH7):c.4354-10C>G	rs543141581
NM_000257.4(MYH7):c.4354-10C>T	rs543141581
NM_000257.4(MYH7):c.4354-4G>A
NM_000257.4(MYH7):c.4354-7C>T	rs370093487
NM_000257.4(MYH7):c.4362C>T (p.Ala1454=)	rs727505281
NM_000257.4(MYH7):c.4377G>A (p.Lys1459=)	rs201307101
NM_000257.4(MYH7):c.4380T>C (p.Tyr1460=)
NM_000257.4(MYH7):c.4389G>T (p.Ser1463=)	rs781203524
NM_000257.4(MYH7):c.4392G>A (p.Gln1464=)	rs1306601682
NM_000257.4(MYH7):c.4395G>A (p.Ser1465=)	rs397516213
NM_000257.4(MYH7):c.4395G>T (p.Ser1465=)	rs397516213
NM_000257.4(MYH7):c.4404G>A (p.Glu1468=)
NM_000257.4(MYH7):c.4407C>T (p.Ser1469=)	rs1428752523
NM_000257.4(MYH7):c.4410G>T (p.Ser1470=)
NM_000257.4(MYH7):c.4419G>A (p.Glu1473=)	rs1892255907
NM_000257.4(MYH7):c.4461C>G (p.Ala1487=)	rs2138645345
NM_000257.4(MYH7):c.4464T>C (p.Tyr1488=)
NM_000257.4(MYH7):c.4476G>A (p.Leu1492=)
NM_000257.4(MYH7):c.4491C>T (p.Thr1497=)
NM_000257.4(MYH7):c.4498C>A (p.Arg1500=)	rs45544633
NM_000257.4(MYH7):c.4515G>A (p.Leu1505=)	rs397516219
NM_000257.4(MYH7):c.4515G>T (p.Leu1505=)	rs397516219
NM_000257.4(MYH7):c.4519+12G>T
NM_000257.4(MYH7):c.4519+16A>C
NM_000257.4(MYH7):c.4519+8G>A	rs2138645069
NM_000257.4(MYH7):c.4519+9G>C	rs2138645065
NM_000257.4(MYH7):c.4520-12T>C
NM_000257.4(MYH7):c.4520-16C>T
NM_000257.4(MYH7):c.4520-17C>T
NM_000257.4(MYH7):c.4520-4A>G
NM_000257.4(MYH7):c.4520-5C>T
NM_000257.4(MYH7):c.4524G>A (p.Glu1508=)
NM_000257.4(MYH7):c.4536G>A (p.Leu1512=)	rs780259714
NM_000257.4(MYH7):c.4542G>A (p.Glu1514=)	rs750753882
NM_000257.4(MYH7):c.4545G>A (p.Gln1515=)	rs765697662
NM_000257.4(MYH7):c.4551T>C (p.Gly1517=)	rs1892238660
NM_000257.4(MYH7):c.4581G>A (p.Glu1527=)	rs2138644369
NM_000257.4(MYH7):c.4588C>A (p.Arg1530=)
NM_000257.4(MYH7):c.4593G>A (p.Lys1531=)	rs747037455
NM_000257.4(MYH7):c.4626A>C (p.Ser1542=)
NM_000257.4(MYH7):c.4629C>A (p.Ala1543=)	rs1892234964
NM_000257.4(MYH7):c.4635G>A (p.Glu1545=)	rs1595074236
NM_000257.4(MYH7):c.4644+11G>C
NM_000257.4(MYH7):c.4644+15A>C	rs2138644080
NM_000257.4(MYH7):c.4644+2TG[7]	rs143276274
NM_000257.4(MYH7):c.4644+8T>C

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.