ClinVar Miner

List of variants in gene GGA3, MRPS7 studied for Combined oxidative phosphorylation deficiency 34

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_015971.4(MRPS7):c.5C>T (p.Ala2Val)	rs8075276	0.67348
NM_015971.4(MRPS7):c.83+23C>G	rs62085969
NM_015971.4(MRPS7):c.83+23_83+24del	rs36039201

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