ClinVar Miner

List of variants in gene OPA1 studied for Behr syndrome

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_015560.2(OPA1):c.1705+1G>T rs879255595
NM_015560.2(OPA1):c.2708_2711delTTAG (p.Val903Glyfs) rs80356530
NM_015560.2(OPA1):c.599C>T (p.Ser200Phe) rs200243596
NM_130837.2(OPA1):c.1369G>A (p.Val457Met) rs879255594
NM_130837.2(OPA1):c.2635C>T (p.Arg879Ter) rs879255593

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