ClinVar Miner

List of variants in gene EYS, PHF3 studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 157
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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_001142800.2(EYS):c.*278T>C rs572403267 0.00080
NM_001142800.2(EYS):c.*529A>C 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_001142800.2(EYS):c.*514A>G rs1017192510 0.00019
NM_001142800.2(EYS):c.*554A>G 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.8999T>C (p.Ile3000Thr) rs778823043 0.00008
NM_001142800.2(EYS):c.9108T>A (p.Asn3036Lys) rs937362206 0.00007
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.9186C>T (p.Asn3062=) rs1203358626 0.00005
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu) rs1161453292 0.00004
NM_001142800.2(EYS):c.9202G>C (p.Glu3068Gln) rs1241787129 0.00004
NM_001142800.2(EYS):c.9263G>A (p.Gly3088Glu) rs913465684 0.00004
NM_001142800.2(EYS):c.9352T>C (p.Phe3118Leu) rs953147842 0.00004
NM_001142800.2(EYS):c.9414T>G (p.Asp3138Glu) rs374161234 0.00004
NM_001142800.2(EYS):c.8236G>T (p.Asp2746Tyr) rs1349879153 0.00003
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.8917A>C (p.Arg2973=) rs1022087052 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.9371T>C (p.Ile3124Thr) rs770840726 0.00003
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter) rs933169926 0.00002
NM_001142800.2(EYS):c.8633C>G (p.Ala2878Gly) rs1409480033 0.00002
NM_001142800.2(EYS):c.8791C>G (p.Gln2931Glu) rs774179534 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.8255_8260del (p.Leu2752_Asn2754delinsTyr) rs1296130120 0.00001
NM_001142800.2(EYS):c.8414C>A (p.Thr2805Lys) rs752557263 0.00001
NM_001142800.2(EYS):c.8468T>C (p.Ile2823Thr) rs149686954 0.00001
NM_001142800.2(EYS):c.8499T>A (p.Asn2833Lys) rs1420315601 0.00001
NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter) rs1326635278 0.00001
NM_001142800.2(EYS):c.8659G>T (p.Gly2887Ter) rs1768381543 0.00001
NM_001142800.2(EYS):c.8680G>A (p.Gly2894Ser) rs971882330 0.00001
NM_001142800.2(EYS):c.8723A>G (p.Asn2908Ser) rs761809527 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.8793A>G (p.Gln2931=) rs1215751447 0.00001
NM_001142800.2(EYS):c.8851A>G (p.Lys2951Glu) rs1186427936 0.00001
NM_001142800.2(EYS):c.8879T>C (p.Met2960Thr) rs982064061 0.00001
NM_001142800.2(EYS):c.8901C>T (p.Tyr2967=) rs1404137865 0.00001
NM_001142800.2(EYS):c.8946A>G (p.Ile2982Met) rs1197940044 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.9060A>G (p.Ile3020Met) rs898622662 0.00001
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro) rs569561277 0.00001
NM_001142800.2(EYS):c.9088G>A (p.Val3030Met) rs940065327 0.00001
NM_001142800.2(EYS):c.9420A>C (p.Gln3140His) rs898765917 0.00001
NM_001142800.1(EYS):c.[3906C>A;9405T>A]
NM_001142800.2(EYS):c.*189T>C rs1195516155
NM_001142800.2(EYS):c.*286T>A rs553600976
NM_001142800.2(EYS):c.*548G>A rs1768312466
NM_001142800.2(EYS):c.8234-15T>A rs886061665
NM_001142800.2(EYS):c.8236del (p.Asp2746fs)
NM_001142800.2(EYS):c.8239T>G (p.Phe2747Val) rs1279860809
NM_001142800.2(EYS):c.8242_8243del (p.Leu2748fs)
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.8326G>C (p.Val2776Leu) rs886061664
NM_001142800.2(EYS):c.8350C>G (p.His2784Asp)
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.8392del (p.Asp2798fs)
NM_001142800.2(EYS):c.8408dup (p.Asn2803fs) rs398123576
NM_001142800.2(EYS):c.8411_8412insTT (p.Val2804_Thr2805insTer)
NM_001142800.2(EYS):c.8412_8413insCA (p.Thr2805fs)
NM_001142800.2(EYS):c.8413dup (p.Thr2805fs)
NM_001142800.2(EYS):c.8455del (p.Thr2819fs)
NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly) rs1554163965
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.8590G>T (p.Gly2864Ter) rs1582140331
NM_001142800.2(EYS):c.8598del (p.Gly2867fs) rs1050742628
NM_001142800.2(EYS):c.8611G>A (p.Val2871Ile) rs948892214
NM_001142800.2(EYS):c.8616_8617del (p.Asp2873fs) rs2149625000
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.8652C>A (p.Cys2884Ter)
NM_001142800.2(EYS):c.8678del (p.Asn2893fs) rs1554163929
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.8750T>A (p.Leu2917Ter) rs764362221
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.8804dup (p.Tyr2935Ter)
NM_001142800.2(EYS):c.8815T>C (p.Cys2939Arg) rs2149624604
NM_001142800.2(EYS):c.8816G>A (p.Cys2939Tyr) rs1582139965
NM_001142800.2(EYS):c.8816G>C (p.Cys2939Ser) rs1582139965
NM_001142800.2(EYS):c.8830G>A (p.Val2944Met) rs1335320588
NM_001142800.2(EYS):c.8830del (p.Val2944fs) rs776526721
NM_001142800.2(EYS):c.8846A>T (p.Glu2949Val) rs1768370055
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.8959A>G (p.Ser2987Gly) rs2149624309
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.9012_9020del (p.Glu3004_Asn3006del) rs1768361133
NM_001142800.2(EYS):c.9013G>T (p.Glu3005Ter)
NM_001142800.2(EYS):c.9036del (p.Leu3013fs) rs1225304963
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.9101A>G (p.Tyr3034Cys) rs779289332
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.9166_9167delinsCCTCCC (p.Ile3056fs)
NM_001142800.2(EYS):c.9177_9180del (p.Ala3058_Tyr3059insTer)
NM_001142800.2(EYS):c.9181A>T (p.Asn3061Tyr) rs1561993477
NM_001142800.2(EYS):c.9182_9185del (p.Asn3061fs)
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs) rs886044149
NM_001142800.2(EYS):c.9197T>C (p.Leu3066Pro)
NM_001142800.2(EYS):c.9202G>A (p.Glu3068Lys) rs1241787129
NM_001142800.2(EYS):c.9223_9232del (p.Asn3075fs) rs1582139308
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.9337_9350del (p.Lys3113fs)
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del) rs536788112
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.9383_9387del (p.Lys3128fs) rs1409801782
NM_001142800.2(EYS):c.9402_9403insGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGGAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC (p.Tyr3135delinsGlyGlyIleSerAlaHisCysLysLeuArgLeuProGlySerArgHisSerProAlaSerAlaSerGlnGlyAlaGlyThrThrGlyAlaArgHisTyrAlaArgLeuIlePheCysIlePheSerArgAspGlyValSerProPheTer)
NM_001142800.2(EYS):c.9428_9429dup (p.Thr3144fs) rs1270198704

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