ClinVar Miner

List of variants in gene RP1L1 reported by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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Gene type:
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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_178857.6(RP1L1):c.1138G>A (p.Gly380Arg) rs184332984 0.00198
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354 0.00124
NM_178857.6(RP1L1):c.3200G>C (p.Gly1067Ala) rs201393573 0.00057
NM_178857.6(RP1L1):c.6586A>G (p.Ile2196Val) rs200407750 0.00047
NM_178857.6(RP1L1):c.455G>A (p.Arg152Gln) rs200213603 0.00030
NM_178857.6(RP1L1):c.609+2T>C rs199958805 0.00030
NM_178857.6(RP1L1):c.211C>T (p.Arg71Cys) rs201291934 0.00017
NM_178857.6(RP1L1):c.262C>T (p.His88Tyr) rs201171027 0.00015
NM_178857.6(RP1L1):c.2927C>T (p.Ala976Val) rs200854148 0.00013
NM_178857.6(RP1L1):c.71C>T (p.Thr24Ile) rs771358254 0.00011
NM_178857.6(RP1L1):c.549C>T (p.Gly183=) rs200762007 0.00010
NM_178857.6(RP1L1):c.235C>T (p.Arg79Cys) rs377269054 0.00009
NM_178857.6(RP1L1):c.601G>A (p.Gly201Arg) rs767784152 0.00009
NM_178857.6(RP1L1):c.236G>A (p.Arg79His) rs373251905 0.00007
NM_178857.6(RP1L1):c.329C>T (p.Pro110Leu) rs536817048 0.00006
NM_178857.6(RP1L1):c.4610C>T (p.Ala1537Val) rs375128393 0.00006
NM_178857.6(RP1L1):c.194T>C (p.Met65Thr) rs377036512 0.00004
NM_178857.6(RP1L1):c.6118G>T (p.Glu2040Ter) rs201774530 0.00003
NM_178857.6(RP1L1):c.353G>A (p.Arg118Gln) rs557203614 0.00002
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_178857.6(RP1L1):c.3194C>T (p.Pro1065Leu) rs774639195 0.00001
NM_178857.6(RP1L1):c.593C>T (p.Thr198Met) rs757917733 0.00001
NC_000008.11:g.(10616588_10622592)_(10623202_?)del
NC_000008.11:g.(?_10606894)_(10623202_?)del
NM_178857.6(RP1L1):c.1049C>A (p.Thr350Lys)
NM_178857.6(RP1L1):c.1286C>A (p.Ala429Asp)
NM_178857.6(RP1L1):c.1825G>T (p.Glu609Ter)
NM_178857.6(RP1L1):c.2180T>G (p.Leu727Arg)
NM_178857.6(RP1L1):c.2677C>T (p.Arg893Cys)
NM_178857.6(RP1L1):c.283C>T (p.Gln95Ter) rs1563131180
NM_178857.6(RP1L1):c.3022C>T (p.Gln1008Ter) rs756996764
NM_178857.6(RP1L1):c.3029G>T (p.Gly1010Val)
NM_178857.6(RP1L1):c.3157G>A (p.Glu1053Lys)
NM_178857.6(RP1L1):c.3189G>C (p.Glu1063Asp)
NM_178857.6(RP1L1):c.3304G>A (p.Glu1102Lys)
NM_178857.6(RP1L1):c.3413A>C (p.Lys1138Thr)
NM_178857.6(RP1L1):c.3461C>T (p.Ser1154Leu)
NM_178857.6(RP1L1):c.3595T>G (p.Ser1199Ala) rs1797825562
NM_178857.6(RP1L1):c.3596C>G (p.Ser1199Cys) rs863225442
NM_178857.6(RP1L1):c.388C>T (p.Arg130Trp)
NM_178857.6(RP1L1):c.4212_4213del (p.Val1405fs)
NM_178857.6(RP1L1):c.4426G>C (p.Gly1476Arg)
NM_178857.6(RP1L1):c.449C>T (p.Thr150Ile) rs758699416
NM_178857.6(RP1L1):c.454C>T (p.Arg152Trp)
NM_178857.6(RP1L1):c.4699C>T (p.Arg1567Cys)
NM_178857.6(RP1L1):c.4816C>T (p.Arg1606Cys)
NM_178857.6(RP1L1):c.5374C>T (p.Gln1792Ter)
NM_178857.6(RP1L1):c.553G>T (p.Ala185Ser)
NM_178857.6(RP1L1):c.5540_5541del (p.Glu1847fs)
NM_178857.6(RP1L1):c.6067G>T (p.Val2023Leu)
NM_178857.6(RP1L1):c.6147G>T (p.Gln2049His)
NM_178857.6(RP1L1):c.6311C>T (p.Pro2104Leu)
NM_178857.6(RP1L1):c.661G>A (p.Gly221Arg)
NM_178857.6(RP1L1):c.6626T>C (p.Leu2209Ser) rs1181387936
NM_178857.6(RP1L1):c.6656A>G (p.Glu2219Gly)
NM_178857.6(RP1L1):c.800C>T (p.Pro267Leu)
NM_178857.6(RP1L1):c.803C>A (p.Pro268Gln)

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