ClinVar Miner

List of variants in gene OPA1 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 25
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HGVS dbSNP
GRCh37/hg19 3q29(chr3:193331148-193415325)x1
NM_015560.2(OPA1):c.1187T>A (p.Leu396His) rs727504060
NM_015560.2(OPA1):c.1212+5G>T rs863224136
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.1516+1G>C rs886041318
NM_015560.2(OPA1):c.1516+1G>T rs886041318
NM_015560.2(OPA1):c.1649del (p.Asp550fs) rs1064794125
NM_015560.2(OPA1):c.1669C>T (p.Arg557Ter) rs398124299
NM_015560.2(OPA1):c.1847+1G>C rs863224134
NM_015560.2(OPA1):c.2197C>T (p.Arg733Ter) rs1553784985
NM_015560.2(OPA1):c.2496+4_2496+5delinsGTAAC rs863224143
NM_015560.2(OPA1):c.2569C>T (p.Arg857Ter) rs794727405
NM_015560.2(OPA1):c.2708-2A>G rs886041438
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_015560.2(OPA1):c.2727_2731del (p.Asn909fs) rs1553787992
NM_015560.2(OPA1):c.687T>G (p.Tyr229Ter) rs863224128
NM_015560.2(OPA1):c.871-1G>A rs863224130
NM_015560.2(OPA1):c.983A>G (p.Lys328Arg) rs398124303
NM_015560.2(OPA1):c.985-2A>G rs886041317
NM_130831.3(OPA1):c.2717_2720del (p.Val906fs) rs879255560
NM_130831.3(OPA1):c.448+1490_448+1492delinsATA rs863224141
NM_130831.3(OPA1):c.527_528del (p.Lys176fs) rs794727804
NM_130837.3(OPA1):c.804_805del (p.Lys269fs) rs863224142
NM_130837.3(OPA1):c.959_962del (p.Ile320fs) rs1064794208

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