ClinVar Miner

List of variants reported as uncertain significance for MELAS syndrome by MGZ Medical Genetics Center

Included ClinVar conditions (6):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.895A>G (p.Met299Val)	rs140262282	0.00003
NC_012920.1(MT-CO3):m.9247G>C
NC_012920.1(MT-ND5):m.13289G>A
NC_012920.1(MT-ND5):m.13912C>T
NC_012920.1(MT-ND5):m.14021T>C

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