ClinVar Miner

List of variants in gene RP1L1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354 0.00124
NM_178857.6(RP1L1):c.1434C>T (p.Asp478=) rs138367868 0.00075
NM_178857.6(RP1L1):c.5452G>A (p.Ala1818Thr) rs199701906 0.00073
NM_178857.6(RP1L1):c.487C>G (p.Arg163Gly) rs187140236 0.00041
NM_178857.6(RP1L1):c.1762G>T (p.Asp588Tyr) rs200344135 0.00038
NM_178857.6(RP1L1):c.4725G>A (p.Glu1575=) rs200941554 0.00025
NM_178857.6(RP1L1):c.6611A>C (p.Glu2204Ala) rs200588941 0.00024
NM_178857.6(RP1L1):c.6902C>G (p.Ser2301Cys) rs199631825 0.00020
NM_178857.6(RP1L1):c.4744C>T (p.Arg1582Trp) rs185345872 0.00019
NM_178857.6(RP1L1):c.211C>T (p.Arg71Cys) rs201291934 0.00017
NM_178857.6(RP1L1):c.2849G>A (p.Arg950His) rs201968725 0.00012
NM_178857.6(RP1L1):c.212G>A (p.Arg71His) rs200996822 0.00011
NM_178857.6(RP1L1):c.2295C>T (p.Asp765=) rs193225741 0.00010
NM_178857.6(RP1L1):c.2456G>C (p.Gly819Ala) rs201576854 0.00010
NM_178857.6(RP1L1):c.2732G>T (p.Ser911Ile) rs757352407 0.00010
NM_178857.6(RP1L1):c.5224G>A (p.Glu1742Lys) rs558895396 0.00009
NM_178857.6(RP1L1):c.274G>A (p.Ala92Thr) rs759671638 0.00007
NM_178857.6(RP1L1):c.1067A>T (p.Asp356Val) rs750107135 0.00006
NM_178857.6(RP1L1):c.1394C>T (p.Ser465Leu) rs772280379 0.00006
NM_178857.6(RP1L1):c.329C>T (p.Pro110Leu) rs536817048 0.00006
NM_178857.6(RP1L1):c.5606C>G (p.Pro1869Arg) rs200473134 0.00006
NM_178857.6(RP1L1):c.1378G>A (p.Gly460Ser) rs369924450 0.00005
NM_178857.6(RP1L1):c.4577C>T (p.Thr1526Met) rs267601688 0.00005
NM_178857.6(RP1L1):c.4486A>C (p.Thr1496Pro) rs759412489 0.00004
NM_178857.6(RP1L1):c.6118G>T (p.Glu2040Ter) rs201774530 0.00003
NM_178857.6(RP1L1):c.1958G>A (p.Ser653Asn) rs761344455 0.00002
NM_178857.6(RP1L1):c.5223C>T (p.Asp1741=) rs372016680 0.00002
NM_178857.6(RP1L1):c.5278C>T (p.Leu1760Phe) rs762713239 0.00002
NM_178857.6(RP1L1):c.751+5G>C rs781255037 0.00002
NM_178857.6(RP1L1):c.1616C>T (p.Thr539Ile) rs1168570410 0.00001
NM_178857.6(RP1L1):c.1682C>A (p.Ala561Asp) rs1013927022 0.00001
NM_178857.6(RP1L1):c.3638G>A (p.Ser1213Asn) rs1240908237 0.00001
NM_178857.6(RP1L1):c.394G>A (p.Val132Ile) rs747870004 0.00001
NM_178857.6(RP1L1):c.1257_1258dup (p.Val420fs) rs764382843
NM_178857.6(RP1L1):c.1810G>A (p.Ala604Thr) rs1474979716
NM_178857.6(RP1L1):c.2129G>A (p.Ser710Asn) rs1554452227
NM_178857.6(RP1L1):c.2325C>A (p.Pro775=) rs1563124477
NM_178857.6(RP1L1):c.2327del (p.Ile776fs) rs1563124470
NM_178857.6(RP1L1):c.2369C>T (p.Ala790Val)
NM_178857.6(RP1L1):c.2585G>T (p.Cys862Phe)
NM_178857.6(RP1L1):c.283C>T (p.Gln95Ter) rs1563131180
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.3115G>A (p.Gly1039Arg) rs1797838030
NM_178857.6(RP1L1):c.3599G>A (p.Gly1200Asp) rs964723839
NM_178857.6(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs369606728
NM_178857.6(RP1L1):c.424TCC[2] (p.Ser144del) rs771757943
NM_178857.6(RP1L1):c.449C>T (p.Thr150Ile) rs758699416
NM_178857.6(RP1L1):c.4769C>A (p.Pro1590His) rs372867998
NM_178857.6(RP1L1):c.4831C>G (p.Arg1611Gly) rs199604262
NM_178857.6(RP1L1):c.498G>C (p.Gln166His) rs1554454548
NM_178857.6(RP1L1):c.5706G>T (p.Glu1902Asp) rs2117192752
NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter) rs201017122
NM_178857.6(RP1L1):c.6185_6226del (p.Glu2062_Glu2075del)
NM_178857.6(RP1L1):c.6286C>T (p.Pro2096Ser) rs374414796
NM_178857.6(RP1L1):c.6427_6453del (p.Pro2143_Gln2151del) rs763500127

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