List of variants in gene MYH6 reported as pathogenic

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)	rs143978652	0.00110
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)	rs267606904	0.00015
NM_002471.4(MYH6):c.2384G>A (p.Arg795Gln)	rs267606907	0.00004
NM_002471.4(MYH6):c.4369G>A (p.Glu1457Lys)	rs267606905	0.00001
NM_002471.4(MYH6):c.735T>G (p.Phe245Leu)	rs1263987728	0.00001
MYH6, MYH6/MYH7 HYBRID
NM_002471.4(MYH6):c.1410+1G>A	rs1566513862
NM_002471.4(MYH6):c.2459T>A (p.Ile820Asn)	rs267606903
NM_002471.4(MYH6):c.2462_2469del (p.Arg821fs)	rs1555334047
NM_002471.4(MYH6):c.2489C>T (p.Pro830Leu)	rs267606906
NM_002471.4(MYH6):c.3193dup (p.Gln1065fs)	rs863225269
NM_002471.4(MYH6):c.4034T>C (p.Leu1345Pro)
NM_002471.4(MYH6):c.5797-1G>A

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