ClinVar Miner

List of variants in gene OPA1 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 47
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HGVS dbSNP
NM_001354663.2(OPA1):c.-260_-243del rs863224140
NM_015560.2(OPA1):c.1065+5G>A rs1057519244
NM_015560.2(OPA1):c.1096C>T (p.Arg366Ter) rs104893753
NM_015560.2(OPA1):c.112C>T (p.Arg38Ter) rs761460379
NM_015560.2(OPA1):c.1137T>G (p.Pro379=) rs139861334
NM_015560.2(OPA1):c.1300C>T (p.Leu434=) rs1577243073
NM_015560.2(OPA1):c.1516+1G>T rs886041318
NM_015560.2(OPA1):c.1516+3A>G rs1553878573
NM_015560.2(OPA1):c.1560A>C (p.Glu520Asp) rs1424763009
NM_015560.2(OPA1):c.1654T>C (p.Phe552Leu) rs1560380226
NM_015560.2(OPA1):c.1706C>A (p.Ala569Glu) rs1553879362
NM_015560.2(OPA1):c.1712G>A (p.Arg571His) rs140606054
NM_015560.2(OPA1):c.2131C>T (p.Arg711Ter) rs863224906
NM_015560.2(OPA1):c.2256G>T (p.Leu752=) rs148047706
NM_015560.2(OPA1):c.2354A>G (p.Gln785Arg) rs1064797302
NM_015560.2(OPA1):c.2356-8T>G rs1064797303
NM_015560.2(OPA1):c.2386G>T (p.Glu796Ter) rs1553786499
NM_015560.2(OPA1):c.2427T>C (p.Leu809=) rs145999595
NM_015560.2(OPA1):c.2471G>A (p.Arg824Gln) rs200412464
NM_015560.2(OPA1):c.2569C>T (p.Arg857Ter) rs794727405
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_015560.2(OPA1):c.2714G>A (p.Arg905Gln) rs763280368
NM_015560.2(OPA1):c.2761_2774del (p.Asp920_Gly921insTer) rs1553788026
NM_015560.2(OPA1):c.326T>C (p.Val109Ala) rs77173739
NM_015560.2(OPA1):c.344C>T (p.Ala115Val) rs200983556
NM_015560.2(OPA1):c.429T>C (p.Ile143=) rs761336580
NM_015560.2(OPA1):c.557-668G>A rs983041061
NM_015560.2(OPA1):c.557-8_557-3del rs1553872701
NM_015560.2(OPA1):c.700G>T (p.Glu234Ter) rs1319065221
NM_015560.2(OPA1):c.70A>G (p.Ile24Val) rs201520438
NM_015560.2(OPA1):c.870+5G>A rs754576717
NM_015560.2(OPA1):c.88C>T (p.Leu30=) rs185976555
NM_130831.3(OPA1):c.527_528del (p.Lys176fs) rs794727804
NM_130837.3(OPA1):c.1157dup (p.Ser387fs)
NM_130837.3(OPA1):c.1230+1G>A
NM_130837.3(OPA1):c.1478A>T (p.Asp493Val)
NM_130837.3(OPA1):c.154C>T (p.Arg52Ter)
NM_130837.3(OPA1):c.1575_1608+4del
NM_130837.3(OPA1):c.1899G>A (p.Trp633Ter)
NM_130837.3(OPA1):c.1935+1G>C
NM_130837.3(OPA1):c.2057_2058del (p.His686fs)
NM_130837.3(OPA1):c.2779-9A>G
NM_130837.3(OPA1):c.820C>T (p.Gln274Ter)
NM_130837.3(OPA1):c.87A>G (p.Pro29=)
NM_130837.3(OPA1):c.949-1G>C
NM_130837.3(OPA1):c.959_962del (p.Ile320fs) rs1064794208
Single allele

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