ClinVar Miner

List of variants in gene OPA1 reported as uncertain significance by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 35
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HGVS dbSNP
NM_001354663.2(OPA1):c.-260_-243del rs863224140
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_015560.2(OPA1):c.1158A>G (p.Val386=) rs1014702193
NM_015560.2(OPA1):c.1212+5_1212+6delinsTC rs797044639
NM_015560.2(OPA1):c.1233T>C (p.Ala411=) rs886043473
NM_015560.2(OPA1):c.1301T>C (p.Leu434Pro) rs1553877946
NM_015560.2(OPA1):c.1333C>A (p.Arg445Ser) rs886043340
NM_015560.2(OPA1):c.1380_1382del (p.Arg461del) rs1199056091
NM_015560.2(OPA1):c.1516+23A>G rs200416825
NM_015560.2(OPA1):c.1590-6dup rs748933560
NM_015560.2(OPA1):c.1712G>A (p.Arg571His) rs140606054
NM_015560.2(OPA1):c.1781T>C (p.Phe594Ser) rs886042514
NM_015560.2(OPA1):c.1923G>A (p.Ala641=) rs138114609
NM_015560.2(OPA1):c.2124_2141del (p.Ser708_Trp714delinsArg) rs886043383
NM_015560.2(OPA1):c.2255T>C (p.Leu752Pro) rs1560035790
NM_015560.2(OPA1):c.2256G>T (p.Leu752=) rs148047706
NM_015560.2(OPA1):c.2276-4C>G rs763386320
NM_015560.2(OPA1):c.22G>T (p.Ala8Ser) rs794726939
NM_015560.2(OPA1):c.2355+13A>G rs371943802
NM_015560.2(OPA1):c.2445C>T (p.Thr815=) rs139934030
NM_015560.2(OPA1):c.2564T>G (p.Leu855Arg) rs139106405
NM_015560.2(OPA1):c.2862A>C (p.Glu954Asp) rs189036094
NM_015560.2(OPA1):c.33-8T>C rs370303596
NM_015560.2(OPA1):c.556+546_556+547del rs886043124
NM_015560.2(OPA1):c.557-672G>A rs1553872542
NM_015560.2(OPA1):c.625-4T>A rs374509936
NM_015560.2(OPA1):c.70A>G (p.Ile24Val) rs201520438
NM_015560.2(OPA1):c.756C>T (p.Asp252=) rs147242797
NM_015560.2(OPA1):c.778C>G (p.Leu260Val) rs866764665
NM_015560.2(OPA1):c.85C>G (p.Pro29Ala) rs145565705
NM_015560.2(OPA1):c.932C>A (p.Ala311Asp) rs398124302
NM_015560.2(OPA1):c.984G>T (p.Lys328Asn) rs1560365123
NM_130831.3(OPA1):c.448+1490C>A rs727504057
NM_130837.2(OPA1):c.245A>G (p.Tyr82Cys) rs749063844
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173

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