ClinVar Miner

List of variants studied for MERRF syndrome by GeneReviews

Included ClinVar conditions (3):

Kearns-Sayre syndrome; Leber optic atrophy; MERRF syndrome; MELAS syndrome; NARP syndrome; Leigh syndrome; Progressive external ophthalmoplegia
MERRF syndrome
MERRF syndrome; MELAS syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-TK):m.8344A>G	rs118192098
NC_012920.1(MT-TK):m.8356T>C	rs118192099
NC_012920.1(MT-TK):m.8363G>A	rs118192100
m.611G>A	rs118203886
m.8361G>A	rs118192104

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