List of variants in gene OPA3 reported by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001017989.3(OPA3):c.258G>C (p.Glu86Asp)	rs202205093	0.00013
NM_001017989.3(OPA3):c.514C>T (p.Pro172Ser)	rs201023208	0.00009
NM_025136.4(OPA3):c.337G>A (p.Glu113Lys)	rs142467378	0.00007
NM_025136.4(OPA3):c.494A>G (p.Asn165Ser)	rs558412882	0.00006
NM_001017989.3(OPA3):c.458G>A (p.Arg153His)	rs539903027	0.00005
NM_001017989.3(OPA3):c.265A>G (p.Ile89Val)	rs779625614	0.00001
NM_025136.4(OPA3):c.355T>A (p.Trp119Arg)	rs375471439	0.00001
NM_025136.4(OPA3):c.433C>T (p.Pro145Ser)	rs1170629118	0.00001
NM_025136.4(OPA3):c.437A>G (p.Gln146Arg)	rs1371375815	0.00001
NM_001017989.3(OPA3):c.383A>T (p.His128Leu)	rs757040753
NM_001017989.3(OPA3):c.445del (p.Leu149fs)	rs780299639
NM_025136.4(OPA3):c.134C>T (p.Pro45Leu)	rs1480319743
NM_025136.4(OPA3):c.191G>A (p.Arg64Gln)
NM_025136.4(OPA3):c.320A>G (p.Gln107Arg)
NM_025136.4(OPA3):c.515A>G (p.His172Arg)

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