List of variants in gene ACO2 studied for retinal disorder

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_001098.3(ACO2):c.836-54T>C	rs203320	0.39646
NM_001098.3(ACO2):c.836-118C>T	rs9619974	0.36682
NM_001098.3(ACO2):c.670C>T (p.Leu224=)	rs1799932	0.36650
NM_001098.3(ACO2):c.1032+17C>T	rs203319	0.33591
NM_001098.3(ACO2):c.192A>C (p.Thr64=)	rs137831	0.29094
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)	rs141772938	0.00383
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala)	rs141878785	0.00064
NM_001098.3(ACO2):c.1038G>A (p.Lys346=)	rs144269243	0.00055
NM_001098.3(ACO2):c.941-19C>T	rs375652573	0.00007
NM_001098.3(ACO2):c.245T>C (p.Ile82Thr)	rs200692540	0.00004
NM_001098.3(ACO2):c.1091T>C (p.Val364Ala)	rs1397401279	0.00001
NM_001098.3(ACO2):c.1390G>T (p.Glu464Ter)	rs1601927180	0.00001
NM_001098.3(ACO2):c.1550C>T (p.Thr517Met)	rs540169523	0.00001
NM_001098.3(ACO2):c.1744C>G (p.Leu582Val)	rs2066571929	0.00001
NM_001098.3(ACO2):c.590A>G (p.Asn197Ser)	rs1034483010	0.00001
NM_001098.3(ACO2):c.927G>C (p.Lys309Asn)	rs772325936	0.00001
NM_001098.3(ACO2):c.1032G>A (p.Glu344=)	rs2146128614
NM_001098.3(ACO2):c.104G>C (p.Ser35Thr)
NM_001098.3(ACO2):c.1240T>G (p.Phe414Val)	rs2066538446
NM_001098.3(ACO2):c.1253C>T (p.Pro418Leu)
NM_001098.3(ACO2):c.1285C>T (p.Arg429Trp)	rs757438868
NM_001098.3(ACO2):c.1387G>T (p.Gly463Trp)	rs2006715
NM_001098.3(ACO2):c.174-52G>T	rs2076199
NM_001098.3(ACO2):c.296A>G (p.Gln99Arg)
NM_001098.3(ACO2):c.336C>G (p.Ser112Arg)	rs786200924
NM_001098.3(ACO2):c.433-2_433-1inv
NM_001098.3(ACO2):c.487G>A (p.Val163Met)	rs759920667
NM_001098.3(ACO2):c.569G>A (p.Gly190Asp)
NM_001098.3(ACO2):c.719G>A (p.Gly240Asp)	rs141878785
NM_001098.3(ACO2):c.776G>A (p.Gly259Asp)	rs786204828
NM_001098.3(ACO2):c.865G>C (p.Glu289Gln)	rs2146127288
NM_001098.3(ACO2):c.934C>T (p.Arg312Trp)	rs2146127377
NM_001098.3(ACO2):c.940+5G>C

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