ClinVar Miner

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

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Gene type:
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Total variants: 23
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HGVS dbSNP
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.1516+1G>T rs886041318
NM_015560.2(OPA1):c.2131C>T (p.Arg711Ter) rs863224906
NM_015560.2(OPA1):c.2569C>T (p.Arg857Ter) rs794727405
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_015560.2(OPA1):c.2761_2774del (p.Asp920_Gly921insTer) rs1553788026
NM_015560.2(OPA1):c.557-668G>A rs983041061
NM_015560.2(OPA1):c.870+5G>A rs754576717
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.949-1G>C
NM_130837.3(OPA1):c.959_962del (p.Ile320fs) rs1064794208
Single allele

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