ClinVar Miner

List of variants in gene combination EYS, PHF3 reported as likely pathogenic for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
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.8834G>A (p.Gly2945Glu) rs1161453292 0.00004
NM_001142800.2(EYS):c.8309T>C (p.Leu2770Pro) rs1186771860 0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732 0.00003
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.9344T>A (p.Val3115Asp) rs748838955 0.00002
NM_001142800.2(EYS):c.8659G>T (p.Gly2887Ter) rs1768381543 0.00001
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896 0.00001
NM_001142800.2(EYS):c.8788del (p.Asp2930fs) rs1561993898 0.00001
NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn) rs1211856182 0.00001
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr) rs948998853 0.00001
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro) rs569561277 0.00001
NM_001142800.2(EYS):c.8236G>C (p.Asp2746His)
NM_001142800.2(EYS):c.8236del (p.Asp2746fs)
NM_001142800.2(EYS):c.8243del (p.Leu2748fs) rs1240944758
NM_001142800.2(EYS):c.8243dup (p.Leu2748fs) rs1240944758
NM_001142800.2(EYS):c.8254_8255del (p.Leu2752fs)
NM_001142800.2(EYS):c.8278C>T (p.Arg2760Cys) rs1384884334
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.8412_8413insCA (p.Thr2805fs)
NM_001142800.2(EYS):c.8522_8525del (p.Pro2841fs) rs1768389030
NM_001142800.2(EYS):c.8541T>A (p.Cys2847Ter)
NM_001142800.2(EYS):c.8543del (p.Ile2848fs) rs2149625125
NM_001142800.2(EYS):c.8565_8568del (p.Asn2855fs) rs1216993077
NM_001142800.2(EYS):c.8573del (p.Leu2858fs)
NM_001142800.2(EYS):c.8616_8617del (p.Asp2873fs) rs2149625000
NM_001142800.2(EYS):c.8628dup (p.Thr2877fs) rs2149624980
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001142800.2(EYS):c.8652C>A (p.Cys2884Ter)
NM_001142800.2(EYS):c.8678del (p.Asn2893fs) rs1554163929
NM_001142800.2(EYS):c.8687del (p.Thr2896fs)
NM_001142800.2(EYS):c.8697C>A (p.Cys2899Ter)
NM_001142800.2(EYS):c.8726del (p.Thr2909fs)
NM_001142800.2(EYS):c.8734C>T (p.Gln2912Ter) rs1561993938
NM_001142800.2(EYS):c.8734_8735insT (p.Gln2912fs)
NM_001142800.2(EYS):c.8751_8754del (p.Asn2918fs)
NM_001142800.2(EYS):c.8780_8783del (p.Cys2927fs)
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs) rs1554163919
NM_001142800.2(EYS):c.8816G>A (p.Cys2939Tyr) rs1582139965
NM_001142800.2(EYS):c.8830del (p.Val2944fs) rs776526721
NM_001142800.2(EYS):c.8858C>A (p.Ser2953Ter)
NM_001142800.2(EYS):c.8868del (p.Ala2957fs) rs2149624477
NM_001142800.2(EYS):c.8892_8896del (p.Tyr2964_Lys2966delinsTer) rs1768367412
NM_001142800.2(EYS):c.8945_8946delinsATTTCAC (p.Ile2982fs)
NM_001142800.2(EYS):c.8971del (p.Thr2991fs)
NM_001142800.2(EYS):c.8982_8985del (p.Ile2995fs)
NM_001142800.2(EYS):c.8993T>C (p.Met2998Thr) rs768837125
NM_001142800.2(EYS):c.9010_9019del (p.Glu3004fs)
NM_001142800.2(EYS):c.9013G>T (p.Glu3005Ter)
NM_001142800.2(EYS):c.9043_9044insTATA (p.Asn3015delinsIleTer)
NM_001142800.2(EYS):c.9067_9085del (p.Asn3023fs)
NM_001142800.2(EYS):c.9079_9082del (p.Arg3027fs) rs1427770112
NM_001142800.2(EYS):c.9086_9087del (p.Ser3029fs)
NM_001142800.2(EYS):c.9096_9102del (p.Met3032fs)
NM_001142800.2(EYS):c.9131G>T (p.Trp3044Leu) rs772549804
NM_001142800.2(EYS):c.9159_9160del (p.Gln3053fs) rs1486663077
NM_001142800.2(EYS):c.9163_9164del (p.Leu3055fs)
NM_001142800.2(EYS):c.9166_9167del (p.Ile3056fs) rs1165454778
NM_001142800.2(EYS):c.9177_9180del (p.Ala3058_Tyr3059insTer)
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs) rs886044149
NM_001142800.2(EYS):c.9234_9249dup (p.Ile3084delinsSerLysLeuTer) rs1768348055
NM_001142800.2(EYS):c.9238_9239del (p.Asn3080fs) rs2149623736
NM_001142800.2(EYS):c.9258T>A (p.Tyr3086Ter) rs1190932109
NM_001142800.2(EYS):c.9261dup (p.Gly3088fs) rs1768346880
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs) rs869312188
NM_001142800.2(EYS):c.9278del (p.Gly3093fs)
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.9301C>T (p.Gln3101Ter)
NM_001142800.2(EYS):c.9302_9303del (p.Gln3101fs)
NM_001142800.2(EYS):c.9324_9326delinsGG (p.Phe3108fs)
NM_001142800.2(EYS):c.9329G>C (p.Gly3110Ala) rs1582139184
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs) rs771640639
NM_001142800.2(EYS):c.9368del (p.Asn3123fs) rs1768339358
NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs) rs1166245419
NM_001142800.2(EYS):c.9380_9383del (p.Ile3127fs)
NM_001142800.2(EYS):c.9428_9429dup (p.Thr3144fs) rs1270198704
NM_001142800.2(EYS):c.9432A>G (p.Thr3144=)

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