List of variants in gene DES reported as likely benign for Myofibrillar Myopathy, Dominant

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001927.4(DES):c.1026C>T (p.Asn342=)	rs61731508	0.02125
NM_001927.4(DES):c.*662G>A	rs116635264	0.01332
NM_001927.4(DES):c.638C>T (p.Ala213Val)	rs41272699	0.01015
NM_001927.4(DES):c.1375G>A (p.Val459Ile)	rs73991549	0.00981
NM_001927.4(DES):c.792C>T (p.Asp264=)	rs150370918	0.00168
NM_001927.4(DES):c.18G>A (p.Ser6=)	rs199972656	0.00104
NM_001927.4(DES):c.924C>T (p.Asn308=)	rs578191306	0.00030
NM_001927.4(DES):c.635G>A (p.Arg212Gln)	rs144261171	0.00019
NM_001927.4(DES):c.*198G>A	rs560055588	0.00013
NM_001927.4(DES):c.665G>A (p.Arg222His)	rs367961979	0.00011
NM_001927.4(DES):c.*559G>A	rs547498920	0.00003
NM_001927.4(DES):c.897+4_897+5del	rs397516699

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