ClinVar Miner

List of variants in gene OPA1 reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1035+4T>C rs166850 0.88294
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn) rs7624750 0.50224
NM_130837.3(OPA1):c.2274T>C (p.Ala758=) rs9851685 0.50117
NM_130837.3(OPA1):c.1035+32T>C rs10451941 0.44363
NM_130837.3(OPA1):c.1935+16T>G rs9831772 0.07649
NM_130837.3(OPA1):c.2778+11C>G rs111688935 0.03759
NM_130837.3(OPA1):c.449-21A>G rs75213840 0.02640
NM_130837.3(OPA1):c.1035+37A>C rs76253392 0.02623
NM_130837.3(OPA1):c.629C>T (p.Ala210Val) rs34307082 0.02411
NM_130837.3(OPA1):c.2961C>T (p.Arg987=) rs35540805 0.00758
NM_130837.3(OPA1):c.2049A>G (p.Val683=) rs73069703 0.00753
NM_130837.3(OPA1):c.679-8C>T rs114348597 0.00589
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_130837.3(OPA1):c.1342A>C (p.Arg448=) rs149752576 0.00229
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys) rs75414918 0.00229
NM_130837.3(OPA1):c.321G>A (p.Ser107=) rs117888848 0.00212
NM_130837.3(OPA1):c.1236A>G (p.Ala412=) rs150807064 0.00179
NM_130837.3(OPA1):c.1681+23A>G rs200416825 0.00174
NM_130837.3(OPA1):c.2332-19C>A rs77355463 0.00155
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys) rs151103940 0.00116
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala) rs145565705 0.00103
NM_130837.3(OPA1):c.254G>A (p.Arg85His) rs35630194 0.00068
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_130837.3(OPA1):c.2610C>T (p.Thr870=) rs139934030 0.00042
NM_130837.3(OPA1):c.2421G>T (p.Leu807=) rs148047706 0.00041
NM_130837.3(OPA1):c.921C>T (p.Asp307=) rs147242797 0.00029
NM_130837.3(OPA1):c.2088G>A (p.Ala696=) rs138114609 0.00028
NM_130837.3(OPA1):c.3027A>C (p.Glu1009Asp) rs189036094 0.00021
NM_130837.3(OPA1):c.70A>G (p.Ile24Val) rs201520438 0.00017
NM_130837.3(OPA1):c.790-4T>A rs374509936 0.00009
NM_130837.3(OPA1):c.1877G>A (p.Arg626His) rs140606054 0.00006
NM_130837.3(OPA1):c.2520+13A>G rs371943802 0.00004
NM_130837.3(OPA1):c.245A>G (p.Tyr82Cys) rs749063844 0.00003
NM_130837.3(OPA1):c.33-8T>C rs370303596 0.00003
NM_130837.3(OPA1):c.448+50A>G rs377239493 0.00003
NM_130837.3(OPA1):c.1150-2A>G rs886041317 0.00001
NM_130837.3(OPA1):c.1398T>C (p.Ala466=) rs886043473 0.00001
NM_130837.3(OPA1):c.1936-2A>G rs747454971 0.00001
NM_130837.3(OPA1):c.2178+1G>A rs1560392160 0.00001
NM_130837.3(OPA1):c.2729T>G (p.Leu910Arg) rs139106405 0.00001
NM_130837.3(OPA1):c.3048A>C (p.Ter1016Tyr) rs143929819 0.00001
NM_130837.3(OPA1):c.531C>A (p.Ser177Arg) rs727504057 0.00001
NM_130837.3(OPA1):c.533T>A (p.Leu178Ter) rs727504058 0.00001
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_130837.3(OPA1):c.1035+1G>A rs727504059
NM_130837.3(OPA1):c.1097C>A (p.Ala366Asp) rs398124302
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg) rs398124303
NM_130837.3(OPA1):c.1149G>T (p.Lys383Asn) rs1560365123
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter) rs104893753
NM_130837.3(OPA1):c.1305+1G>A rs745927258
NM_130837.3(OPA1):c.1323A>G (p.Val441=) rs1014702193
NM_130837.3(OPA1):c.1352T>G (p.Leu451Arg) rs727504060
NM_130837.3(OPA1):c.1364C>T (p.Pro455Leu) rs794727069
NM_130837.3(OPA1):c.1377+5_1377+6delinsTC rs797044639
NM_130837.3(OPA1):c.1389dup (p.Gly464fs) rs1553877912
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro) rs1553877946
NM_130837.3(OPA1):c.1498C>A (p.Arg500Ser) rs886043340
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.1517del (p.Leu506fs) rs398124297
NM_130837.3(OPA1):c.1545_1547del (p.Arg516del) rs1199056091
NM_130837.3(OPA1):c.1696delinsTTC (p.Ser566fs) rs1553878647
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173
NM_130837.3(OPA1):c.1935+3A>G rs398124300
NM_130837.3(OPA1):c.1946T>C (p.Phe649Ser) rs886042514
NM_130837.3(OPA1):c.2224_2225del (p.Glu742fs) rs794727345
NM_130837.3(OPA1):c.2289_2306del (p.Ser763_Trp769delinsArg) rs886043383
NM_130837.3(OPA1):c.22G>T (p.Ala8Ser) rs794726939
NM_130837.3(OPA1):c.2420T>C (p.Leu807Pro) rs1560035790
NM_130837.3(OPA1):c.2422C>T (p.Gln808Ter) rs398124301
NM_130837.3(OPA1):c.2441-4C>G rs763386320
NM_130837.3(OPA1):c.2547_2548del (p.Glu849fs) rs1560041195
NM_130837.3(OPA1):c.2661+1G>T rs794727392
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter) rs794727405
NM_130837.3(OPA1):c.2816dup (p.Arg940fs) rs886043317
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.292_301del (p.Leu98fs) rs794727289
NM_130837.3(OPA1):c.2987_2988del (p.Lys996fs) rs886043136
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_130837.3(OPA1):c.604_605del (p.Leu202fs) rs886043124
NM_130837.3(OPA1):c.610+360G>A rs1553872542
NM_130837.3(OPA1):c.610+364G>A rs983041061
NM_130837.3(OPA1):c.611-19T>C rs3772393
NM_130837.3(OPA1):c.678+2T>G rs1553872742
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) rs794727804
NM_130837.3(OPA1):c.804_805del (p.Lys269fs) rs863224142
NM_130837.3(OPA1):c.943C>G (p.Leu315Val) rs866764665

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