ClinVar Miner

List of variants in gene PRPF8 reported as benign for Retinitis pigmentosa 13

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_006445.4(PRPF8):c.4011A>G (p.Gln1337=) rs118000367 0.01936
NM_006445.4(PRPF8):c.1290-10A>G rs73291009 0.01904
NM_006445.4(PRPF8):c.2873-13T>C rs57276551 0.01890
NM_006445.4(PRPF8):c.6247C>T (p.Leu2083=) rs34341522 0.01503
NM_006445.4(PRPF8):c.3299+14T>C rs16951071 0.01464
NM_006445.4(PRPF8):c.2631G>A (p.Ala877=) rs35420265 0.01452
NM_006445.4(PRPF8):c.1855-13C>T rs16951135 0.01407
NM_006445.4(PRPF8):c.5469C>T (p.His1823=) rs115404141 0.00600
NM_006445.4(PRPF8):c.2493C>G (p.Ser831=) rs146749363 0.00299
NM_006445.4(PRPF8):c.435-6T>G rs75026252 0.00262
NM_006445.4(PRPF8):c.434+18A>C rs72820383
NM_006445.4(PRPF8):c.6854-4G>A rs75996323

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