ClinVar Miner

List of variants in gene OPA1 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 65
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HGVS dbSNP
NM_001354663.2(OPA1):c.-260_-243del rs863224140
NM_015560.2(OPA1):c.1009C>G (p.His337Asp) rs1553877591
NM_015560.2(OPA1):c.112C>T (p.Arg38Ter) rs761460379
NM_015560.2(OPA1):c.1177A>C (p.Arg393=) rs149752576
NM_015560.2(OPA1):c.1212+10T>C rs200114656
NM_015560.2(OPA1):c.1212_1212+4del rs1577242473
NM_015560.2(OPA1):c.1224dup (p.Gly409fs) rs1553877912
NM_015560.2(OPA1):c.1266C>G (p.Ser422Arg) rs1553877941
NM_015560.2(OPA1):c.1412T>C (p.Leu471Pro) rs1553878150
NM_015560.2(OPA1):c.1462G>A (p.Gly488Arg) rs1553878554
NM_015560.2(OPA1):c.1501G>A (p.Val501Ile) rs1553878564
NM_015560.2(OPA1):c.1516+3A>G rs1553878573
NM_015560.2(OPA1):c.1516+5G>A rs1553878576
NM_015560.2(OPA1):c.1549G>T (p.Glu517Ter) rs748215343
NM_015560.2(OPA1):c.1569del (p.Gln524fs) rs1560377736
NM_015560.2(OPA1):c.1608A>C (p.Ala536=) rs78767626
NM_015560.2(OPA1):c.1669_1671del (p.Arg557del) rs1560380246
NM_015560.2(OPA1):c.1884A>G (p.Val628=) rs73069703
NM_015560.2(OPA1):c.1978T>C (p.Trp660Arg) rs1553881180
NM_015560.2(OPA1):c.2109T>C (p.Ala703=) rs9851685
NM_015560.2(OPA1):c.2241del (p.Phe747fs) rs1553785025
NM_015560.2(OPA1):c.2256G>T (p.Leu752=) rs148047706
NM_015560.2(OPA1):c.2334G>A (p.Trp778Ter) rs1553785338
NM_015560.2(OPA1):c.2355+1G>A rs1553785362
NM_015560.2(OPA1):c.2427T>C (p.Leu809=) rs145999595
NM_015560.2(OPA1):c.2496+1G>T rs794727392
NM_015560.2(OPA1):c.256del (p.Arg86fs) rs1553871618
NM_015560.2(OPA1):c.2586C>G (p.Tyr862Ter) rs1577327315
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_015560.2(OPA1):c.2796C>T (p.Arg932=) rs35540805
NM_015560.2(OPA1):c.2808G>A (p.Ala936=) rs117475774
NM_015560.2(OPA1):c.2818+3G>C rs1553788117
NM_015560.2(OPA1):c.2819-4A>G rs184273607
NM_015560.2(OPA1):c.2848_2854dup (p.Phe952Ter) rs1553797598
NM_015560.2(OPA1):c.321G>A (p.Ser107=) rs117888848
NM_015560.2(OPA1):c.326T>C (p.Val109Ala) rs77173739
NM_015560.2(OPA1):c.420G>T (p.Val140=) rs35801538
NM_015560.2(OPA1):c.43C>A (p.Gln15Lys) rs75414918
NM_015560.2(OPA1):c.473G>A (p.Ser158Asn) rs7624750
NM_015560.2(OPA1):c.575C>T (p.Ala192Val) rs34307082
NM_015560.2(OPA1):c.625-4T>A rs374509936
NM_015560.2(OPA1):c.703C>T (p.Arg235Ter) rs761743852
NM_015560.2(OPA1):c.851C>T (p.Thr284Met) rs141326740
NM_015560.2(OPA1):c.870+2del rs1577226484
NM_015560.2(OPA1):c.870+5G>A rs754576717
NM_015560.2(OPA1):c.871-1G>T rs863224130
NM_015560.2(OPA1):c.871-6G>A rs1553876585
NM_015560.2(OPA1):c.871-8G>T rs367618769
NM_015560.2(OPA1):c.872T>A (p.Val291Asp) rs1553876592
NM_015560.2(OPA1):c.88C>T (p.Leu30=) rs185976555
NM_015560.2(OPA1):c.983A>G (p.Lys328Arg) rs398124303
NM_015560.2(OPA1):c.985-1G>A rs879255510
NM_015560.2(OPA1):c.985-2A>T rs886041317
NM_015560.2:c.985del
NM_130831.3(OPA1):c.2717_2720del (p.Val906fs) rs879255560
NM_130831.3(OPA1):c.527_528del (p.Lys176fs) rs794727804
NM_130837.2(OPA1):c.706C>A (p.Gln236Lys) rs779375399
NM_130837.3(OPA1):c.1035+4T>C rs166850
NM_130837.3(OPA1):c.1136G>A (p.Arg379His)
NM_130837.3(OPA1):c.1293C>T (p.Thr431=)
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173
NM_130837.3(OPA1):c.1886T>C (p.Leu629Pro)
NM_130837.3(OPA1):c.3010del (p.Asp1005fs)
NM_130837.3(OPA1):c.804_805del (p.Lys269fs) rs863224142
NM_130837.3(OPA1):c.93_96dup (p.Leu33fs)

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