ClinVar Miner

List of variants in gene POLG reported as pathogenic by ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn)	rs1131691575	0.00001
NM_002693.3(POLG):c.3643+2T>C	rs1335880349

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