ClinVar Miner

List of variants in gene combination EYS, PHF3 reported as uncertain significance 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: 57
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HGVS dbSNP gnomAD frequency
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.*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.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.9371T>C (p.Ile3124Thr) rs770840726 0.00003
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.8861T>A (p.Phe2954Tyr) rs755879622 0.00002
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp) rs748838955 0.00002
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.8680G>A (p.Gly2894Ser) rs971882330 0.00001
NM_001142800.2(EYS):c.8723A>G (p.Asn2908Ser) rs761809527 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.8946A>G (p.Ile2982Met) rs1197940044 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_001142800.2(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.8239T>G (p.Phe2747Val) rs1279860809
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.8519A>G (p.Glu2840Gly) rs1554163965
NM_001142800.2(EYS):c.8611G>A (p.Val2871Ile) rs948892214
NM_001142800.2(EYS):c.8618A>G (p.Asp2873Gly) rs1554163939
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.8830G>A (p.Val2944Met) rs1335320588
NM_001142800.2(EYS):c.8846A>T (p.Glu2949Val) rs1768370055
NM_001142800.2(EYS):c.8959A>G (p.Ser2987Gly) rs2149624309
NM_001142800.2(EYS):c.9012_9020del (p.Glu3004_Asn3006del) rs1768361133
NM_001142800.2(EYS):c.9101A>G (p.Tyr3034Cys) rs779289332
NM_001142800.2(EYS):c.9181A>T (p.Asn3061Tyr) rs1561993477
NM_001142800.2(EYS):c.9197T>C (p.Leu3066Pro)
NM_001142800.2(EYS):c.9202G>A (p.Glu3068Lys) rs1241787129

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