List of variants in gene MYH7 reported as pathogenic by Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.2168G>A (p.Arg723His)	rs397516135	0.00001
NM_000257.4(MYH7):c.1073A>T (p.His358Leu)	rs606231316
NM_000257.4(MYH7):c.1151C>A (p.Ser384Tyr)	rs606231319
NM_000257.4(MYH7):c.1530C>A (p.Phe510Leu)	rs606231323
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)	rs606231324
NM_000257.4(MYH7):c.1952A>G (p.His651Arg)	rs606231328
NM_000257.4(MYH7):c.1956+2T>G	rs606231329
NM_000257.4(MYH7):c.2028del (p.Asn676fs)	rs606231331
NM_000257.4(MYH7):c.2051T>G (p.Met684Arg)	rs606231332
NM_000257.4(MYH7):c.2163-1G>A	rs606231334
NM_000257.4(MYH7):c.2686G>A (p.Asp896Asn)	rs606231340

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