ClinVar Miner

List of variants in gene OPA1 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NM_015560.2(OPA1):c.1096C>T (p.Arg366Ter) rs104893753
NM_015560.2(OPA1):c.1140+1G>A rs745927258
NM_015560.2(OPA1):c.1187T>A (p.Leu396His) rs727504060
NM_015560.2(OPA1):c.1212+5G>T rs863224136
NM_015560.2(OPA1):c.1224dup (p.Gly409fs) rs1553877912
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.1352del (p.Leu451fs) rs398124297
NM_015560.2(OPA1):c.1516+1G>C rs886041318
NM_015560.2(OPA1):c.1516+1G>T rs886041318
NM_015560.2(OPA1):c.1531delinsTTC (p.Ser511fs) rs1553878647
NM_015560.2(OPA1):c.1549G>T (p.Glu517Ter)
NM_015560.2(OPA1):c.1569del (p.Gln524fs) rs1560377736
NM_015560.2(OPA1):c.1635C>A (p.Ser545Arg) rs398124298
NM_015560.2(OPA1):c.1649del (p.Asp550fs) rs1064794125
NM_015560.2(OPA1):c.1669C>T (p.Arg557Ter) rs398124299
NM_015560.2(OPA1):c.1771-2A>G rs747454971
NM_015560.2(OPA1):c.1847+1G>C rs863224134
NM_015560.2(OPA1):c.2013+1G>A rs1560392160
NM_015560.2(OPA1):c.2059_2060del (p.Glu687fs) rs794727345
NM_015560.2(OPA1):c.2131C>T (p.Arg711Ter) rs863224906
NM_015560.2(OPA1):c.2197C>T (p.Arg733Ter) rs1553784985
NM_015560.2(OPA1):c.2241del (p.Phe747fs) rs1553785025
NM_015560.2(OPA1):c.2257C>T (p.Gln753Ter) rs398124301
NM_015560.2(OPA1):c.2334G>A (p.Trp778Ter) rs1553785338
NM_015560.2(OPA1):c.2355+1G>A rs1553785362
NM_015560.2(OPA1):c.2382_2383del (p.Glu794fs) rs1560041195
NM_015560.2(OPA1):c.2496+1G>T rs794727392
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.256del (p.Arg86fs) rs1553871618
NM_015560.2(OPA1):c.2651dup (p.Arg885fs) rs886043317
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.2822_2823del (p.Lys941fs) rs886043136
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.292_301del (p.Leu98fs) rs794727289
NM_015560.2(OPA1):c.531_533delinsATA (p.Ser177_Leu178delinsArgTer) rs863224141
NM_015560.2(OPA1):c.533T>A (p.Leu178Ter) rs727504058
NM_015560.2(OPA1):c.624+2T>G rs1553872742
NM_015560.2(OPA1):c.635_636del (p.Lys212fs) rs794727804
NM_015560.2(OPA1):c.637_638GA[1] (p.Lys214fs) rs863224142
NM_015560.2(OPA1):c.687T>G (p.Tyr229Ter) rs863224128
NM_015560.2(OPA1):c.703C>T (p.Arg235Ter) rs761743852
NM_015560.2(OPA1):c.790_793TTGA[1] (p.Ile265fs) rs1064794208
NM_015560.2(OPA1):c.869G>A (p.Arg290Gln) rs121908375
NM_015560.2(OPA1):c.870+1G>A rs727504059
NM_015560.2(OPA1):c.871-1G>A rs863224130
NM_015560.2(OPA1):c.983A>G (p.Lys328Arg) rs398124303
NM_015560.2(OPA1):c.985-1G>A rs879255510
NM_015560.2(OPA1):c.985-2A>G rs886041317
NM_130837.2(OPA1):c.1352T>G (p.Leu451Arg) rs727504060

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