ClinVar Miner

List of variants reported as pathogenic for Behr syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_130837.3(OPA1):c.1369G>A (p.Val457Met) rs879255594
NM_130837.3(OPA1):c.1870+1G>T rs879255595
NM_130837.3(OPA1):c.2287del (p.Ser763fs) rs1219753329
NM_130837.3(OPA1):c.2635C>T (p.Arg879Ter) rs879255593
NM_130837.3(OPA1):c.2873_2876del rs80356530

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