ClinVar Miner

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

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_006445.4(PRPF8):c.891T>C (p.Asn297=) rs7503397 0.31150
NM_006445.4(PRPF8):c.3774+6G>A rs11078563 0.31089
NM_006445.4(PRPF8):c.1914C>G (p.Leu638=) rs11078565 0.31074
NM_006445.4(PRPF8):c.2847G>A (p.Pro949=) rs33965342 0.29624
NM_006445.4(PRPF8):c.637T>C (p.Leu213=) rs11559305 0.27527
NM_006445.4(PRPF8):c.6588T>C (p.His2196=) rs1802491 0.21248
NM_006445.4(PRPF8):c.3775-14T>C rs3814969 0.17793
NM_006445.4(PRPF8):c.3939G>A (p.Pro1313=) rs35169383 0.02787
NM_006445.4(PRPF8):c.6294G>A (p.Lys2098=) rs11559309 0.02784
NM_006445.4(PRPF8):c.4639-13G>A rs62088058 0.02780
NM_006445.4(PRPF8):c.993-7A>G rs62089988 0.02527
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.2409G>A (p.Ala803=) rs114284408 0.01227
NM_006445.4(PRPF8):c.3061-11T>G rs11652160 0.01070
NM_006445.4(PRPF8):c.5469C>T (p.His1823=) rs115404141 0.00600
NM_006445.4(PRPF8):c.101-3C>T rs75670228 0.00453
NM_006445.4(PRPF8):c.4707G>A (p.Leu1569=) rs143237388 0.00343
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.2601C>T (p.Ile867=) rs117892584 0.00034
NM_006445.4(PRPF8):c.5412C>T (p.Asn1804=) rs151214963 0.00034
NM_006445.4(PRPF8):c.-79C>T rs74635192
NM_006445.4(PRPF8):c.6854-4G>A rs75996323

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