List of variants reported as uncertain significance for Infantile cerebellar-retinal degeneration

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala)	rs141878785	0.00064
NM_001098.3(ACO2):c.2051G>A (p.Arg684Gln)	rs200345386	0.00011
NM_001098.3(ACO2):c.2050C>T (p.Arg684Trp)	rs768950391	0.00006
NM_001098.3(ACO2):c.245T>C (p.Ile82Thr)	rs200692540	0.00004
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.1942C>T (p.Arg648Cys)	rs369064868	0.00001
NM_001098.3(ACO2):c.2302G>A (p.Ala768Thr)	rs1804785	0.00001
NM_001098.3(ACO2):c.590A>G (p.Asn197Ser)	rs1034483010	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.1253C>T (p.Pro418Leu)
NM_001098.3(ACO2):c.1285C>T (p.Arg429Trp)	rs757438868
NM_001098.3(ACO2):c.1940C>G (p.Ala647Gly)
NM_001098.3(ACO2):c.2026C>G (p.Leu676Val)	rs1569025557
NM_001098.3(ACO2):c.2153T>C (p.Ile718Thr)	rs1569026431
NM_001098.3(ACO2):c.296A>G (p.Gln99Arg)
NM_001098.3(ACO2):c.487G>A (p.Val163Met)	rs759920667

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