List of variants in gene OPA1 studied for Abortive cerebellar ataxia

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: 16

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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.1311A>G (p.Ile437Met)	rs143319805	0.00056
NM_130837.3(OPA1):c.245A>G (p.Tyr82Cys)	rs749063844	0.00003
NM_130837.3(OPA1):c.861C>G (p.Ile287Met)	rs1732782708	0.00001
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)	rs863224140
NM_130837.3(OPA1):c.1369G>A (p.Val457Met)	rs879255594
NM_130837.3(OPA1):c.1626A>G (p.Glu542=)	rs1734453026
NM_130837.3(OPA1):c.2489G>A (p.Trp830Ter)	rs1287548904
NM_130837.3(OPA1):c.2635C>T (p.Arg879Ter)	rs879255593
NM_130837.3(OPA1):c.2873_2876del	rs80356530
NM_130837.3(OPA1):c.2885_2983+8del
NM_130837.3(OPA1):c.2924A>G (p.Asp975Gly)	rs1432160044
NM_130837.3(OPA1):c.2937_2938del (p.Lys979fs)

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