ClinVar Miner

List of variants in gene RP1L1 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 42
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HGVS dbSNP
NC_000008.11:g.10611771delA
NM_178857.5(RP1L1):c.1067A>T (p.Asp356Val) rs750107135
NM_178857.5(RP1L1):c.1138G>A (p.Gly380Arg) rs184332984
NM_178857.5(RP1L1):c.1258_1259insAG (p.Val420Glufs) rs764382843
NM_178857.5(RP1L1):c.1378G>A (p.Gly460Ser) rs369924450
NM_178857.5(RP1L1):c.1434C>T (p.Asp478=) rs138367868
NM_178857.5(RP1L1):c.1682C>A (p.Ala561Asp) rs1013927022
NM_178857.5(RP1L1):c.168C>A (p.Arg56=) rs187433303
NM_178857.5(RP1L1):c.1762G>T (p.Asp588Tyr) rs200344135
NM_178857.5(RP1L1):c.2129G>A (p.Ser710Asn) rs1554452227
NM_178857.5(RP1L1):c.212G>A (p.Arg71His) rs200996822
NM_178857.5(RP1L1):c.217C>T (p.Pro73Ser) rs202082944
NM_178857.5(RP1L1):c.2456G>C (p.Gly819Ala) rs201576854
NM_178857.5(RP1L1):c.2644C>T (p.Arg882Trp) rs148936402
NM_178857.5(RP1L1):c.273C>T (p.Ser91=) rs201810499
NM_178857.5(RP1L1):c.2849G>A (p.Arg950His) rs201968725
NM_178857.5(RP1L1):c.394G>A (p.Val132Ile) rs747870004
NM_178857.5(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs369606728
NM_178857.5(RP1L1):c.407G>A (p.Arg136His) rs189960401
NM_178857.5(RP1L1):c.449C>T (p.Thr150Ile) rs758699416
NM_178857.5(RP1L1):c.4725G>A (p.Glu1575=) rs200941554
NM_178857.5(RP1L1):c.4769C>A (p.Pro1590His) rs372867998
NM_178857.5(RP1L1):c.4865G>A (p.Arg1622Gln) rs151260617
NM_178857.5(RP1L1):c.498G>C (p.Gln166His) rs1554454548
NM_178857.5(RP1L1):c.5211G>A (p.Gly1737=) rs201594207
NM_178857.5(RP1L1):c.5278C>T (p.Leu1760Phe) rs762713239
NM_178857.5(RP1L1):c.5452G>A (p.Ala1818Thr) rs199701906
NM_178857.5(RP1L1):c.5713G>A (p.Gly1905Ser) rs202121941
NM_178857.5(RP1L1):c.5821C>T (p.Gln1941Ter) rs201017122
NM_178857.5(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354
NM_178857.5(RP1L1):c.6611A>C (p.Glu2204Ala) rs200588941
NM_178857.5(RP1L1):c.6902C>G (p.Ser2301Cys) rs199631825
NM_178857.5(RP1L1):c.7047T>C (p.Thr2349=) rs202213014
NM_178857.5(RP1L1):c.751+5G>C rs781255037
NM_178857.5(RP1L1):c.906G>A (p.Pro302=) rs368862886
NM_178857.6(RP1L1):c.1616C>T (p.Thr539Ile)
NM_178857.6(RP1L1):c.1958G>A (p.Ser653Asn)
NM_178857.6(RP1L1):c.2325C>A (p.Pro775=)
NM_178857.6(RP1L1):c.283C>T (p.Gln95Ter)
NM_178857.6(RP1L1):c.3022C>T (p.Gln1008Ter)
NM_178857.6(RP1L1):c.422_424CCT[2] (p.Ser144del)
NM_178857.6(RP1L1):c.6118G>T (p.Glu2040Ter) rs201774530

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