ClinVar Miner

List of variants reported as likely pathogenic for Retinitis pigmentosa 25

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Total variants: 19
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HGVS dbSNP
NM_001142800.1(EYS):c.1308C>A (p.Cys436Ter)
NM_001142800.1(EYS):c.2137+1G>A rs199740930
NM_001142800.1(EYS):c.3443+1G>T rs373441420
NM_001142800.1(EYS):c.4393dup (p.Ala1465Glyfs) rs750840208
NM_001142800.1(EYS):c.6229_6238del10 (p.Val2077Leufs) rs1554220416
NM_001142800.1(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783
NM_001142800.1(EYS):c.7229-1G>A rs1554171033
NM_001142800.1(EYS):c.8133_8137del5 (p.Phe2712Cysfs) rs751629543
NM_001142800.1(EYS):c.8155_8156delCA (p.His2719Tyrfs) rs764229134
NM_001142800.1(EYS):c.8168delA (p.Gln2723Argfs) rs1168101857
NM_001142800.1(EYS):c.8411dup (p.Thr2805Asnfs) rs763028732
NM_001142800.1(EYS):c.9079_9082delAGAA (p.Arg3027Serfs) rs1427770112
NM_001142800.1(EYS):c.9166_9167delAT (p.Ile3056Glnfs) rs1165454778
NM_001142800.1(EYS):c.9286_9295delGTAAATATCG (p.Val3096Leufs) rs770748359
NM_001142800.1(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190
NM_001142800.1:c.3699delG
NM_001142800.2(EYS):c.6623G>A (p.Gly2208Glu)
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883Lysfs) rs528919874
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106Lysfs) rs1326370032

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