ClinVar Miner

List of variants studied for Combined oxidative phosphorylation deficiency 34

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Total variants: 5

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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.550A>G (p.Met184Val)	rs115047866	0.00067
NM_015971.4(MRPS7):c.508-1G>A	rs372546274	0.00001
NM_015971.4(MRPS7):c.83+23C>G	rs62085969
NM_015971.4(MRPS7):c.83+23_83+24del	rs36039201

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