ClinVar Miner

List of variants in gene RP1L1 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 7
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HGVS dbSNP
NM_178857.6(RP1L1):c.3200G>C (p.Gly1067Ala) rs201393573
NM_178857.6(RP1L1):c.329C>T (p.Pro110Leu) rs536817048
NM_178857.6(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1324_Thr1325insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs369606728
NM_178857.6(RP1L1):c.449C>T (p.Thr150Ile) rs758699416
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354
NM_178857.6(RP1L1):c.652G>T (p.Val218Leu) rs77679870
NM_178857.6(RP1L1):c.899C>T (p.Ser300Leu) rs200642524

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