ClinVar Miner

List of variants in gene EYS, PHF3 studied for Retinitis pigmentosa

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.9030A>G (p.Ala3010=) rs61754905 0.01277
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705 0.00667
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile) rs144513453 0.00443
NM_001370348.2(PHF3):c.*6610A>G rs572403267 0.00080
NM_001370348.2(PHF3):c.*6359T>G rs193035948 0.00039
NM_001142800.2(EYS):c.8789A>G (p.Asp2930Gly) rs201690244 0.00031
NM_001142800.2(EYS):c.9237A>G (p.Leu3079=) rs139944387 0.00026
NM_001142800.2(EYS):c.8916T>C (p.Tyr2972=) rs867410198 0.00021
NM_001370348.2(PHF3):c.*6374T>C rs1017192510 0.00019
NM_001370348.2(PHF3):c.*6334T>C rs780180886 0.00016
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr) rs183589498 0.00013
NM_001142800.2(EYS):c.8860T>C (p.Phe2954Leu) rs79036642 0.00008
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr) rs888739369 0.00003
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs) rs1326370032 0.00003
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter) rs933169926 0.00002
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter) rs527236067 0.00002
NM_001142800.2(EYS):c.8861T>A (p.Phe2954Tyr) rs755879622 0.00002
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp) rs748838955 0.00002
NM_001142800.2(EYS):c.8468T>C (p.Ile2823Thr) rs149686954 0.00001
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896 0.00001
NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn) rs1211856182 0.00001
NM_001370348.2(PHF3):c.*8063_*8068del rs1296130120 0.00001
NM_001142800.2(EYS):c.8326G>C (p.Val2776Leu) rs886061664
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001142800.2(EYS):c.8376_8379dup (p.Glu2794fs) rs527236070
NM_001142800.2(EYS):c.8541T>A (p.Cys2847Ter)
NM_001142800.2(EYS):c.8565_8568del (p.Asn2855fs) rs1216993077
NM_001142800.2(EYS):c.8618A>G (p.Asp2873Gly) rs1554163939
NM_001142800.2(EYS):c.8628dup (p.Thr2877fs) rs2149624980
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001142800.2(EYS):c.8678del (p.Asn2893fs) rs1554163929
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs) rs1554163919
NM_001142800.2(EYS):c.9079_9082del (p.Arg3027fs) rs1427770112
NM_001142800.2(EYS):c.9131G>T (p.Trp3044Leu) rs772549804
NM_001142800.2(EYS):c.9182_9185del (p.Asn3061fs)
NM_001142800.2(EYS):c.9223_9232del (p.Asn3075fs) rs1582139308
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs) rs869312188
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) rs769824975
NM_001142800.2(EYS):c.9329G>C (p.Gly3110Ala) rs1582139184
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs) rs771640639
NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs) rs1166245419
NM_001370348.2(PHF3):c.*6340C>T rs1768312466
NM_001370348.2(PHF3):c.*6602A>T rs553600976
NM_001370348.2(PHF3):c.*6699A>G rs1195516155
NM_001370348.2(PHF3):c.*8104A>T rs886061665

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