ClinVar Miner

List of variants in gene OPA1 reported as uncertain significance for not specified

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.344C>T (p.Ala115Val) rs200983556 0.00013
NM_130837.3(OPA1):c.611-9A>G rs372157755 0.00003
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile) rs375733283 0.00002
NM_130837.3(OPA1):c.838A>G (p.Thr280Ala) rs774668971 0.00002
NM_130837.3(OPA1):c.2228C>T (p.Pro743Leu) rs746579947 0.00001
NM_130837.3(OPA1):c.302G>A (p.Arg101His) rs201856560 0.00001
NM_130837.3(OPA1):c.3048A>C (p.Ter1016Tyr) rs143929819 0.00001
NM_130837.3(OPA1):c.312A>G (p.Ile104Met) rs755117948 0.00001
NM_130837.3(OPA1):c.1036-6G>A rs1553876585
NM_130837.3(OPA1):c.1037T>A (p.Val346Asp) rs1553876592
NM_130837.3(OPA1):c.1189A>G (p.Lys397Glu) rs1057517999
NM_130837.3(OPA1):c.1230T>C (p.Asp410=)
NM_130837.3(OPA1):c.1431C>G (p.Ser477Arg) rs1553877941
NM_130837.3(OPA1):c.1577T>C (p.Leu526Pro) rs1553878150
NM_130837.3(OPA1):c.1681+3A>G rs1553878573
NM_130837.3(OPA1):c.1681+5G>A rs1553878576
NM_130837.3(OPA1):c.1916G>T (p.Arg639Leu)
NM_130837.3(OPA1):c.1935+17C>T
NM_130837.3(OPA1):c.1935+3A>G rs398124300
NM_130837.3(OPA1):c.2143T>C (p.Trp715Arg) rs1553881180
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del) rs755591067
NM_130837.3(OPA1):c.288A>T (p.Arg96Ser)
NM_130837.3(OPA1):c.379C>A (p.Pro127Thr)
NM_130837.3(OPA1):c.52G>C (p.Val18Leu) rs2108864324

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