List of variants in gene OPA1 studied for mitochondrial DNA depletion syndrome

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.1035+4T>C	rs166850	0.88294
NM_130837.3(OPA1):c.2274T>C (p.Ala758=)	rs9851685	0.50117
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys)	rs75414918	0.00229
NM_130837.3(OPA1):c.321G>A (p.Ser107=)	rs117888848	0.00212
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)	rs145565705	0.00103
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe)	rs200243596	0.00022
NM_130837.3(OPA1):c.2429G>A (p.Arg810His)	rs762258708	0.00001
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp)	rs143252541	0.00001
NM_130837.3(OPA1):c.4_5+2del	rs754411271
NM_130837.3(OPA1):c.2552AGA[1] (p.Lys852del)	rs1218413866
NM_130837.3(OPA1):c.2873_2876del	rs80356530

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