ClinVar Miner

List of variants reported as benign for hyper-IgE recurrent infection syndrome 1, autosomal dominant by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.4491T>C (p.Phe1497=) rs7854035 0.99726
NM_203447.4(DOCK8):c.5433G>A (p.Glu1811=) rs1887957 0.75495
NM_203447.4(DOCK8):c.4785+6C>G rs7036567 0.70190
NM_203447.4(DOCK8):c.4886+3A>G rs2360712 0.69369
NM_203447.4(DOCK8):c.895-16T>C rs2296828 0.66765
NM_203447.4(DOCK8):c.289C>A (p.Pro97Thr) rs529208 0.47790
NM_203447.4(DOCK8):c.4107C>G (p.Leu1369=) rs2297079 0.44487
NM_203447.4(DOCK8):c.65C>T (p.Ala22Val) rs506121 0.32449
NM_203447.4(DOCK8):c.1238A>G (p.Asn413Ser) rs10970979 0.24995
NM_203447.4(DOCK8):c.2340G>C (p.Leu780=) rs10814431 0.24804
NM_203447.4(DOCK8):c.1812A>G (p.Lys604=) rs913703 0.23408
NM_203447.4(DOCK8):c.1692T>C (p.Tyr564=) rs10972587 0.13521
NM_203447.4(DOCK8):c.187G>A (p.Asp63Asn) rs3209441 0.11431
NM_203447.4(DOCK8):c.5832G>A (p.Pro1944=) rs10491684 0.09400
NM_203447.4(DOCK8):c.1790C>T (p.Ala597Val) rs17673268 0.07826
NM_203447.4(DOCK8):c.5908G>C (p.Ala1970Pro) rs34908836 0.07052
NM_203447.4(DOCK8):c.3234+8del rs112565335 0.07045
NM_139276.3(STAT3):c.1049+452C>A rs17881320 0.06054
NM_203447.4(DOCK8):c.3230G>A (p.Ser1077Asn) rs34627722 0.05757
NM_139276.3(STAT3):c.2144+20C>T rs8069115 0.03624
NM_203447.4(DOCK8):c.3208A>G (p.Asn1070Asp) rs73382631 0.03284
NM_203447.4(DOCK8):c.2295C>T (p.Ser765=) rs12348944 0.03237
NM_203447.4(DOCK8):c.5818-14C>T rs10124592 0.02927
NM_203447.4(DOCK8):c.3021T>C (p.Phe1007=) rs7034926 0.02921
NM_203447.4(DOCK8):c.952G>A (p.Ala318Thr) rs35482838 0.02279
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys) rs11789099 0.02275
NM_203447.4(DOCK8):c.3565A>G (p.Ile1189Val) rs77399114 0.02082
NM_203447.4(DOCK8):c.528+13A>G rs116483820 0.01176
NM_203447.4(DOCK8):c.2739C>T (p.Ser913=) rs116523732 0.01126
NM_203447.4(DOCK8):c.1679+18G>A rs75894443 0.01123
NM_203447.4(DOCK8):c.3234+16A>C rs77395345 0.01120
NM_203447.4(DOCK8):c.5001C>T (p.His1667=) rs35662752 0.01091
NM_203447.4(DOCK8):c.3441C>T (p.Phe1147=) rs34621129 0.01036
NM_203447.4(DOCK8):c.5211G>A (p.Glu1737=) rs34098809 0.00985
NM_139276.3(STAT3):c.1654-11C>G rs17882035 0.00917
NM_203447.4(DOCK8):c.3840+3A>G rs16938572 0.00865
NM_203447.4(DOCK8):c.2971-14A>G rs140114637 0.00841
NM_139276.3(STAT3):c.711C>T (p.Asp237=) rs17882069 0.00712
NM_203447.4(DOCK8):c.2862A>T (p.Pro954=) rs117610764 0.00615
NM_139276.3(STAT3):c.1381G>C (p.Val461Leu) rs149214040 0.00612
NM_203447.4(DOCK8):c.5154C>T (p.Cys1718=) rs140431229 0.00514
NM_203447.4(DOCK8):c.5187A>G (p.Val1729=) rs111535933 0.00493
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=) rs13285348 0.00471
NM_203447.4(DOCK8):c.3701-17C>T rs376111035 0.00409
NM_203447.4(DOCK8):c.1017G>A (p.Pro339=) rs35746964 0.00395
NM_203447.4(DOCK8):c.3022C>T (p.Arg1008Trp) rs16937932 0.00387
NM_203447.4(DOCK8):c.1356G>A (p.Leu452=) rs113175936 0.00301
NM_203447.4(DOCK8):c.1587C>G (p.Pro529=) rs146289269 0.00296
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018 0.00276
NM_203447.4(DOCK8):c.1516+16C>G rs141986056 0.00266
NM_203447.4(DOCK8):c.6201A>G (p.Glu2067=) rs145573166 0.00221
NM_203447.4(DOCK8):c.2310G>A (p.Glu770=) rs116175117 0.00217
NM_203447.4(DOCK8):c.1582C>A (p.Leu528Met) rs146250176 0.00213
NM_203447.4(DOCK8):c.528+7C>A rs114833839 0.00207
NM_203447.4(DOCK8):c.380G>A (p.Arg127His) rs150742426 0.00196
NM_203447.4(DOCK8):c.4024-4C>T rs111306749 0.00196
NM_203447.4(DOCK8):c.4158C>T (p.Asn1386=) rs77803650 0.00195
NM_203447.4(DOCK8):c.15G>A (p.Pro5=) rs148276394 0.00188
NM_203447.4(DOCK8):c.3606T>C (p.Cys1202=) rs143919622 0.00175
NM_203447.4(DOCK8):c.663C>A (p.Asp221Glu) rs139391329 0.00173
NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys) rs34390308 0.00170
NM_139276.3(STAT3):c.1680C>T (p.Ser560=) rs146817483 0.00145
NM_203447.4(DOCK8):c.332+9T>G rs113744378 0.00145
NM_203447.4(DOCK8):c.640C>T (p.Leu214=) rs150446322 0.00143
NM_203447.4(DOCK8):c.3234+8T>C rs112290938 0.00132
NM_203447.4(DOCK8):c.5010G>A (p.Ala1670=) rs142208336 0.00128
NM_203447.4(DOCK8):c.5781C>T (p.Tyr1927=) rs138225192 0.00122
NM_139276.3(STAT3):c.551-4G>A rs80162032 0.00115
NM_203447.4(DOCK8):c.3813A>G (p.Lys1271=) rs75411647 0.00115
NM_203447.4(DOCK8):c.1881T>C (p.Phe627=) rs140134223 0.00105
NM_203447.4(DOCK8):c.5818-16T>C rs202115648 0.00098
NM_139276.3(STAT3):c.1329C>T (p.Thr443=) rs147955721 0.00091
NM_139276.3(STAT3):c.1854C>T (p.Gly618=) rs117691970 0.00089
NM_139276.3(STAT3):c.225G>A (p.Ser75=) rs146184566 0.00089
NM_203447.4(DOCK8):c.3841-11C>T rs372829200 0.00089
NM_203447.4(DOCK8):c.4588C>G (p.Leu1530Val) rs536373496 0.00084
NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val) rs148081681 0.00076
NM_203447.4(DOCK8):c.333-13T>A rs371504395 0.00072
NM_203447.4(DOCK8):c.1422+17C>T rs200839477 0.00071
NM_203447.4(DOCK8):c.679G>A (p.Glu227Lys) rs76276364 0.00068
NM_203447.4(DOCK8):c.8C>G (p.Thr3Ser) rs199739266 0.00060
NM_203447.4(DOCK8):c.4887-16C>T rs200781199 0.00056
NM_139276.3(STAT3):c.2281T>C (p.Leu761=) rs142236792 0.00054
NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val) rs151094543 0.00046
NM_203447.4(DOCK8):c.5355+6C>T rs188141951 0.00046
NM_203447.4(DOCK8):c.828-7A>G rs200243583 0.00030
NM_203447.4(DOCK8):c.5818-13G>A rs368826292 0.00024
NM_139276.3(STAT3):c.825T>G (p.Leu275=) rs200098006 0.00023
NM_139276.3(STAT3):c.1011C>T (p.Leu337=) rs200623682 0.00020
NM_203447.4(DOCK8):c.4241+12G>A rs371073556 0.00019
NM_139276.3(STAT3):c.2288C>T (p.Ser763Leu) rs140604473 0.00014
NM_139276.3(STAT3):c.1143C>G (p.Ser381=) rs143571879 0.00013
NM_139276.3(STAT3):c.2082T>A (p.His694Gln) rs139701269 0.00011
NM_139276.3(STAT3):c.1233+19C>T rs764434579 0.00010
NM_203447.4(DOCK8):c.5491-7T>A rs184867151 0.00010
NM_203447.4(DOCK8):c.3603C>G (p.Arg1201=) rs149908718 0.00009
NM_139276.3(STAT3):c.2091T>A (p.Ala697=) rs200529713 0.00006
NM_139276.3(STAT3):c.2295C>T (p.Cys765=) rs145244024 0.00006
NM_203447.4(DOCK8):c.2646G>A (p.Thr882=) rs373515697 0.00005
NM_139276.3(STAT3):c.513C>T (p.Asp171=) rs777828006 0.00004
NM_203447.4(DOCK8):c.1036G>A (p.Val346Ile) rs148994877 0.00004
NM_139276.3(STAT3):c.1465-16G>A rs189319171 0.00003
NM_139276.3(STAT3):c.2223T>C (p.Gly741=) rs778445506 0.00002
NM_139276.3(STAT3):c.1123G>A (p.Val375Ile) rs781724933 0.00001
NM_139276.3(STAT3):c.1687G>A (p.Val563Ile) rs749943696 0.00001
NM_139276.3(STAT3):c.1743C>T (p.Asn581=) rs1141144 0.00001
NM_203447.4(DOCK8):c.3079G>A (p.Val1027Ile) rs199782622 0.00001
NM_203447.4(DOCK8):c.470C>T (p.Thr157Met) rs575314722 0.00001
NM_139276.3(STAT3):c.1050-13dup
NM_139276.3(STAT3):c.1191A>G (p.Glu397=)
NM_139276.3(STAT3):c.1200C>T (p.Asn400=)
NM_139276.3(STAT3):c.1335G>A (p.Val445=)
NM_139276.3(STAT3):c.1515C>T (p.Ala505=)
NM_139276.3(STAT3):c.1597T>C (p.Leu533=)
NM_139276.3(STAT3):c.1601-10dup rs3830585
NM_139276.3(STAT3):c.2145-12dup
NM_139276.3(STAT3):c.2174C>T (p.Pro725Leu)
NM_139276.3(STAT3):c.2294G>A (p.Cys765Tyr)
NM_139276.3(STAT3):c.2299A>G (p.Thr767Ala)
NM_139276.3(STAT3):c.373-6dup
NM_139276.3(STAT3):c.48G>A (p.Glu16=)
NM_139276.3(STAT3):c.551-137_551-18del rs1567722156
NM_139276.3(STAT3):c.551-77ATTCCCTCAGGTCAAGGAGT[4] rs768181932
NM_139276.3(STAT3):c.666G>A (p.Ala222=)
NM_139276.3(STAT3):c.708G>A (p.Thr236=)
NM_203447.4(DOCK8):c.2109+11del rs550211916
NM_203447.4(DOCK8):c.2916C>T (p.Thr972=) rs2297075
NM_203447.4(DOCK8):c.3234+15C>A rs79462548
NM_203447.4(DOCK8):c.3234+15del rs375864618
NM_203447.4(DOCK8):c.3234+15dup rs375864618
NM_203447.4(DOCK8):c.3234+21dup rs3831174
NM_203447.4(DOCK8):c.3700+19del rs1229243384
NM_203447.4(DOCK8):c.404+16del rs727505303
NM_203447.4(DOCK8):c.4338+12A>G
NM_203447.4(DOCK8):c.53+14C>G rs756810591
NM_203447.4(DOCK8):c.53+14del rs749863710
NM_203447.4(DOCK8):c.5581-10dup
NM_203447.4(DOCK8):c.5581-18G>C rs10814952
NM_203447.4(DOCK8):c.5581-5del rs764924630
NM_203447.4(DOCK8):c.5962-13_5962-9del
NM_203447.4(DOCK8):c.5962-15_5962-9del rs35071801
NM_203447.4(DOCK8):c.5962-16_5962-9del rs35071801
NM_203447.4(DOCK8):c.699T>C (p.Asn233=) rs2039045

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