List of variants in gene OPA1 reported as likely pathogenic for developmental defect during embryogenesis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	rs143319805	0.00056
NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln)	rs535885178	0.00001
NM_130837.3(OPA1):c.301C>T (p.Arg101Cys)	rs371943668	0.00001
NM_130837.3(OPA1):c.4_5+2del	rs754411271
NM_130837.3(OPA1):c.1035+5G>A	rs754576717
NM_130837.3(OPA1):c.1051G>C (p.Asp351His)	rs1577228080
NM_130837.3(OPA1):c.114_115insG (p.Ser39fs)
NM_130837.3(OPA1):c.1230+5G>A	rs1057519244
NM_130837.3(OPA1):c.1309dup (p.Ile437fs)
NM_130837.3(OPA1):c.1348G>A (p.Val450Met)
NM_130837.3(OPA1):c.1454A>T (p.Asn485Ile)	rs1577243012
NM_130837.3(OPA1):c.164dup (p.Leu55fs)	rs1728771454
NM_130837.3(OPA1):c.1890_1891del (p.Glu630fs)	rs1711513680
NM_130837.3(OPA1):c.1935+1G>C	rs1711518217
NM_130837.3(OPA1):c.2142del (p.Gln714fs)	rs2109139435
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter)	rs863224906
NM_130837.3(OPA1):c.2489G>A (p.Trp830Ter)	rs1287548904
NM_130837.3(OPA1):c.2778+1G>A
NM_130837.3(OPA1):c.2779-9A>G	rs1716524583
NM_130837.3(OPA1):c.2806del (p.Trp936fs)
NM_130837.3(OPA1):c.2873_2876del	rs80356530
NM_130837.3(OPA1):c.2885_2983+8del
NM_130837.3(OPA1):c.2937_2938del (p.Lys979fs)
NM_130837.3(OPA1):c.2983+6T>A	rs1577335678
NM_130837.3(OPA1):c.2987A>C (p.Lys996Thr)	rs1721758840
NM_130837.3(OPA1):c.880G>T (p.Glu294Ter)
NM_130837.3(OPA1):c.885C>G (p.Asn295Lys)	rs750185470

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