ClinVar Miner

List of variants in gene RP1L1 reported as pathogenic

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Total variants: 10
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HGVS dbSNP
NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter)
NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter)
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017
NM_178857.6(RP1L1):c.1972C>T (p.Arg658Ter) rs527236107
NM_178857.6(RP1L1):c.2878T>C (p.Trp960Arg) rs267607018
NM_178857.6(RP1L1):c.3022C>T (p.Gln1008Ter) rs756996764
NM_178857.6(RP1L1):c.3955_3956insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Ala1319_Val1320insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs1585963931
NM_178857.6(RP1L1):c.5470C>T (p.Gln1824Ter) rs1585959862
NM_178857.6(RP1L1):c.56C>A (p.Pro19His) rs748984657
NM_178857.6(RP1L1):c.603del (p.Lys203fs) rs387907367

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