ClinVar Miner

List of variants in gene RP1L1 reported by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_178857.6(RP1L1):c.4019A>G (p.Glu1340Gly) rs9657518 0.28032
NM_178857.6(RP1L1):c.4906G>A (p.Glu1636Lys) rs80094376 0.00276
NM_178857.6(RP1L1):c.1268G>C (p.Arg423Pro) rs566321002 0.00006
NM_178857.6(RP1L1):c.4577C>T (p.Thr1526Met) rs267601688 0.00005
NM_178857.6(RP1L1):c.434G>A (p.Arg145Gln) rs373569904 0.00002
NM_178857.6(RP1L1):c.3565A>G (p.Met1189Val) rs1334046331 0.00001
NM_178857.6(RP1L1):c.3968A>T (p.Glu1323Val) rs1277484313
NM_178857.6(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs369606728
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly) rs4240659
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs1585963467

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