ClinVar Miner

List of variants studied for Optic atrophy 10 with or without ataxia, intellectual disability, and seizures

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_032730.5(RTN4IP1):c.114T>A (p.Pro38=) rs1987623 0.39946
NM_032730.5(RTN4IP1):c.495+27A>G rs1870867 0.36066
NM_032730.5(RTN4IP1):c.254C>T (p.Pro85Leu) rs193121821 0.00016
NM_032730.5(RTN4IP1):c.308G>A (p.Arg103His) rs372054380 0.00003
NM_032730.5(RTN4IP1):c.601A>T (p.Lys201Ter) rs200457692 0.00001
NM_032730.5(RTN4IP1):c.806+1G>A rs772984484 0.00001
NM_032730.5(RTN4IP1):c.92G>C (p.Arg31Thr) rs1327054264 0.00001
GRCh38/hg38 6q21(chr6:106539306-106649299)x1
NM_032730.5(RTN4IP1):c.-328G>T
NM_032730.5(RTN4IP1):c.104_117delinsGAAGGATT (p.Thr35_Arg39delinsArgArgIle) rs2114690778
NM_032730.5(RTN4IP1):c.275-1299T>C
NM_032730.5(RTN4IP1):c.2T>C (p.Met1Thr) rs2114691078
NM_032730.5(RTN4IP1):c.313C>T (p.Pro105Ser) rs1582392486
NM_032730.5(RTN4IP1):c.432G>A (p.Trp144Ter) rs755175825
NM_032730.5(RTN4IP1):c.475G>T (p.Val159Phe)
NM_032730.5(RTN4IP1):c.500C>T (p.Ser167Phe) rs2114677062
NM_032730.5(RTN4IP1):c.508C>T (p.Pro170Ser) rs2114677058
NM_032730.5(RTN4IP1):c.743G>T (p.Gly248Val)
NM_032730.5(RTN4IP1):c.962G>A (p.Gly321Glu) rs145695118

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