ClinVar Miner

List of variants in gene OPA1 reported by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP
NM_015560.2(OPA1):c.1009C>G (p.His337Asp) rs1553877591
NM_015560.2(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_015560.2(OPA1):c.1177A>C (p.Arg393=) rs149752576
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)
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.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.2708_2711delTTAG rs80356530
NM_015560.2(OPA1):c.2796C>T (p.Arg932=) rs35540805
NM_015560.2(OPA1):c.2818+3G>C rs1553788117
NM_015560.2(OPA1):c.2825_2828del (p.Val942fs) rs879255560
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)
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.635_636del (p.Lys212fs) rs794727804
NM_015560.2(OPA1):c.703C>T (p.Arg235Ter) rs761743852
NM_015560.2(OPA1):c.851C>T (p.Thr284Met)
NM_015560.2(OPA1):c.870+4T>C rs166850
NM_015560.2(OPA1):c.870+5G>A rs754576717
NM_015560.2(OPA1):c.871-1G>T
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.983A>G (p.Lys328Arg) rs398124303
NM_015560.2(OPA1):c.985-1G>A rs879255510
NM_130837.2(OPA1):c.706C>A (p.Gln236Lys)

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