List of variants in gene combination POLG, POLGARF reported 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
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.3643+48A>G	rs2307454	0.01182
NM_002693.3(POLG):c.578G>A (p.Arg193Gln)	rs3176162	0.00071
NM_002693.3(POLG):c.162G>A (p.Gln54=)	rs796052878	0.00001
NM_002693.3(POLG):c.3293A>C (p.Asn1098Thr)	rs587780421
NM_002693.3(POLG):c.3572A>G (p.Lys1191Arg)	rs1567183988
NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs)	rs886043241
NM_002693.3(POLG):c.3630dup (p.Gly1211fs)	rs113994101

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