List of variants in gene DES reported as not provided for myofibrillar myopathy 1

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001927.4(DES):c.665G>A (p.Arg222His)	rs367961979	0.00011
NM_001927.4(DES):c.1243C>T (p.Arg415Trp)	rs751942358	0.00004
NM_001927.4(DES):c.1273G>C (p.Ala425Pro)
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del)	rs60538473

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