List of variants in gene DES studied for Dilated cardiomyopathy 1I; Desmin-related myofibrillar myopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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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.1265_1266del (p.Thr422fs)
NM_001927.4(DES):c.1267_1268insTG (p.Tyr423fs)
NM_001927.4(DES):c.1268_1269insT (p.Ser424fs)
NM_001927.4(DES):c.1273G>C (p.Ala425Pro)	rs753305257

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