ClinVar Miner

List of variants in gene RP1L1 reported by Blueprint Genetics

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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_178857.6(RP1L1):c.1762G>T (p.Asp588Tyr) rs200344135 0.00038
NM_178857.6(RP1L1):c.211C>T (p.Arg71Cys) rs201291934 0.00017
NM_178857.6(RP1L1):c.601G>A (p.Gly201Arg) rs767784152 0.00009
NM_178857.6(RP1L1):c.2845C>T (p.Pro949Ser) rs754126350 0.00006
NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter) rs371886218 0.00005
NM_178857.6(RP1L1):c.1451del (p.Ser484fs) rs749460193 0.00004
NM_178857.6(RP1L1):c.4663C>A (p.Gln1555Lys) rs992073335 0.00003
NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter) rs567106336 0.00002
NM_178857.6(RP1L1):c.4342G>A (p.Glu1448Lys) rs748013679 0.00002
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_178857.6(RP1L1):c.1850G>T (p.Cys617Phe) rs756191544 0.00001
NM_178857.6(RP1L1):c.1972C>T (p.Arg658Ter) rs527236107 0.00001
NM_178857.6(RP1L1):c.2480C>G (p.Ser827Ter) rs763759470 0.00001
NM_178857.6(RP1L1):c.3217C>T (p.Arg1073Trp) rs771785916 0.00001
NM_178857.6(RP1L1):c.6856G>C (p.Asp2286His) rs958889956 0.00001
NM_178857.6(RP1L1):c.955G>A (p.Gly319Ser) rs766702464 0.00001
NM_178857.6(RP1L1):c.1025G>A (p.Arg342Lys) rs867536817
NM_178857.6(RP1L1):c.2005C>A (p.His669Asn) rs760824246
NM_178857.6(RP1L1):c.2053_2056del (p.Gln685fs) rs1797868307
NM_178857.6(RP1L1):c.2878T>C (p.Trp960Arg) rs267607018
NM_178857.6(RP1L1):c.32C>G (p.Pro11Arg) rs199642627
NM_178857.6(RP1L1):c.332del (p.Lys111fs) rs1798088088
NM_178857.6(RP1L1):c.3413_3414del (p.Lys1138fs) rs766948560
NM_178857.6(RP1L1):c.3592T>G (p.Ser1198Ala) rs1797825629
NM_178857.6(RP1L1):c.3595T>G (p.Ser1199Ala) rs1797825562
NM_178857.6(RP1L1):c.3642C>A (p.Ser1214Arg) rs367745657
NM_178857.6(RP1L1):c.3695T>G (p.Leu1232Arg) rs1797822746
NM_178857.6(RP1L1):c.3980C>A (p.Thr1327Lys) rs143544262
NM_178857.6(RP1L1):c.424TCC[4] (p.Ser144dup) rs771757943
NM_178857.6(RP1L1):c.831del (p.Arg277fs) rs1797910388

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