ClinVar Miner

List of variants in gene OPA1 reported as pathogenic by GeneReviews

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Gene type:
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Total variants: 10
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NM_015560.2(OPA1):c.1065+1G>T rs80356528
NM_015560.2(OPA1):c.1067_1068dup (p.Ala357fs) rs863225275
NM_015560.2(OPA1):c.1202G>A (p.Gly401Asp) rs863225276
NM_015560.2(OPA1):c.1310A>G (p.Gln437Arg) rs863225277
NM_015560.2(OPA1):c.1334G>A (p.Arg445His) rs80356529
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_015560.2(OPA1):c.2826del (p.Arg943fs) rs80356531
NM_015560.2(OPA1):c.728T>A (p.Leu243Ter) rs863225274
NM_015560.2(OPA1):c.983A>G (p.Lys328Arg) rs398124303
NM_130837.2(OPA1):c.740G>A (p.Arg247His) rs138350727

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