ClinVar Miner

List of variants reported for Occult macular dystrophy; Retinitis pigmentosa 88 by Fulgent Genetics, Fulgent Genetics

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_178857.6(RP1L1):c.844A>C (p.Asn282His) rs75814156 0.02124
NM_178857.6(RP1L1):c.1478G>A (p.Arg493Gln) rs79401306 0.02007
NM_178857.6(RP1L1):c.1691C>G (p.Ser564Cys) rs77585543 0.00860
NM_178857.6(RP1L1):c.3955G>A (p.Ala1319Thr) rs73201156 0.00515
NM_178857.6(RP1L1):c.444T>G (p.Leu148=) rs112609335 0.00208
NM_178857.6(RP1L1):c.954C>T (p.Asp318=) rs200317816 0.00031
NM_178857.6(RP1L1):c.455G>A (p.Arg152Gln) rs200213603 0.00030
NM_178857.6(RP1L1):c.3201C>T (p.Gly1067=) rs200462441 0.00023
NM_178857.6(RP1L1):c.5132G>C (p.Gly1711Ala) rs200635063 0.00019
NM_178857.6(RP1L1):c.4482A>G (p.Gln1494=) rs201357374 0.00011
NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter) rs371886218 0.00005
NM_178857.6(RP1L1):c.202C>T (p.Leu68Phe) rs902459185 0.00001
NM_178857.6(RP1L1):c.2499G>A (p.Pro833=) rs373310698
NM_178857.6(RP1L1):c.3956_4003del (p.Ala1319_Glu1334del) rs746122572

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