ClinVar Miner

List of variants studied for AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

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ClinVar version:
Total variants: 216
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HGVS dbSNP gnomAD frequency
NM_001371928.1(AHDC1):c.2803G>A (p.Ala935Thr) rs4908364 0.99565
NM_001371928.1(AHDC1):c.2145G>T (p.Pro715=) rs2076457 0.71440
NM_001371928.1(AHDC1):c.1209C>T (p.Arg403=) rs113173951 0.08484
NM_001371928.1(AHDC1):c.465G>A (p.Pro155=) rs112179924 0.08011
NM_001371928.1(AHDC1):c.483C>T (p.Gly161=) rs112583157 0.01719
NM_001371928.1(AHDC1):c.2634C>T (p.Ala878=) rs60039430 0.01134
NM_001371928.1(AHDC1):c.832C>T (p.Pro278Ser) rs75930951 0.01124
NM_001371928.1(AHDC1):c.1326C>T (p.Gly442=) rs188125472 0.00758
NM_001371928.1(AHDC1):c.3264C>T (p.Ser1088=) rs149242867 0.00729
NM_001371928.1(AHDC1):c.1410C>T (p.Gly470=) rs138778676 0.00705
NM_001371928.1(AHDC1):c.1411G>A (p.Val471Met) rs147276945 0.00535
NM_001371928.1(AHDC1):c.1235G>A (p.Arg412His) rs181285619 0.00514
NM_001371928.1(AHDC1):c.212C>T (p.Thr71Ile) rs199719452 0.00426
NM_001371928.1(AHDC1):c.4782C>T (p.Pro1594=) rs61742782 0.00401
NM_001371928.1(AHDC1):c.3054C>T (p.Ala1018=) rs78511171 0.00313
NM_001371928.1(AHDC1):c.811C>G (p.Pro271Ala) rs200660997 0.00281
NM_001371928.1(AHDC1):c.286C>T (p.Arg96Cys) rs141734980 0.00258
NM_001371928.1(AHDC1):c.470C>T (p.Ala157Val) rs146915829 0.00253
NM_001371928.1(AHDC1):c.561C>T (p.His187=) rs116570071 0.00252
NM_001371928.1(AHDC1):c.1510G>A (p.Val504Met) rs143346525 0.00177
NM_001371928.1(AHDC1):c.3240T>C (p.Ser1080=) rs148001847 0.00157
NM_001371928.1(AHDC1):c.4021T>G (p.Cys1341Gly) rs111941243 0.00145
NM_001371928.1(AHDC1):c.125G>A (p.Arg42Gln) rs201360711 0.00132
NM_001371928.1(AHDC1):c.2745G>A (p.Leu915=) rs138452825 0.00119
NM_001371928.1(AHDC1):c.4200C>T (p.Pro1400=) rs149518384 0.00119
NM_001371928.1(AHDC1):c.2976C>T (p.Cys992=) rs145774336 0.00096
NM_001371928.1(AHDC1):c.726C>T (p.Ala242=) rs142598186 0.00074
NM_001371928.1(AHDC1):c.489A>G (p.Leu163=) rs142502245 0.00073
NM_001371928.1(AHDC1):c.480C>T (p.Pro160=) rs147707628 0.00067
NM_001371928.1(AHDC1):c.1008C>A (p.Pro336=) rs369467920 0.00061
NM_001371928.1(AHDC1):c.4533G>A (p.Thr1511=) rs139569820 0.00060
NM_001371928.1(AHDC1):c.1608C>T (p.Pro536=) rs143794200 0.00057
NM_001371928.1(AHDC1):c.4384A>C (p.Lys1462Gln) rs145080672 0.00056
NM_001371928.1(AHDC1):c.3572G>A (p.Ser1191Asn) rs146401682 0.00052
NM_001371928.1(AHDC1):c.4329C>G (p.His1443Gln) rs199527867 0.00051
NM_001371928.1(AHDC1):c.870G>A (p.Pro290=) rs369838366 0.00051
NM_001371928.1(AHDC1):c.2827A>C (p.Thr943Pro) rs150289747 0.00050
NM_001371928.1(AHDC1):c.2532C>T (p.Leu844=) rs149713889 0.00037
NM_001371928.1(AHDC1):c.4585C>T (p.Arg1529Cys) rs200178921 0.00032
NM_001371928.1(AHDC1):c.1536C>T (p.Arg512=) rs370692975 0.00031
NM_001371928.1(AHDC1):c.225A>G (p.Pro75=) rs377231405 0.00029
NM_001371928.1(AHDC1):c.657G>A (p.Thr219=) rs148311907 0.00029
NM_001371928.1(AHDC1):c.4603G>A (p.Ala1535Thr) rs193153262 0.00028
NM_001371928.1(AHDC1):c.782C>T (p.Ala261Val) rs144941412 0.00024
NM_001371928.1(AHDC1):c.2538G>A (p.Ser846=) rs202137607 0.00021
NM_001371928.1(AHDC1):c.4797C>T (p.Thr1599=) rs149147457 0.00014
NM_001371928.1(AHDC1):c.1447G>A (p.Val483Ile) rs140548603 0.00009
NM_001371928.1(AHDC1):c.4178G>A (p.Gly1393Asp) rs148277570 0.00007
NM_001371928.1(AHDC1):c.3367G>A (p.Ala1123Thr) rs534403874 0.00006
NM_001371928.1(AHDC1):c.4237C>T (p.Arg1413Trp) rs777716141 0.00006
NM_001371928.1(AHDC1):c.1146C>T (p.Tyr382=) rs200228240 0.00005
NM_001371928.1(AHDC1):c.787G>A (p.Ala263Thr) rs140199241 0.00005
NM_001371928.1(AHDC1):c.803C>T (p.Ser268Leu) rs751818701 0.00005
NM_001371928.1(AHDC1):c.3630G>T (p.Glu1210Asp) rs371337420 0.00004
NM_001371928.1(AHDC1):c.85C>A (p.Pro29Thr) rs947884627 0.00004
NM_001371928.1(AHDC1):c.1537G>A (p.Val513Met) rs772405848 0.00003
NM_001371928.1(AHDC1):c.4145C>T (p.Pro1382Leu) rs747832311 0.00003
NM_001371928.1(AHDC1):c.218G>A (p.Arg73His) rs745907116 0.00002
NM_001371928.1(AHDC1):c.2750C>T (p.Ala917Val) rs199652856 0.00002
NM_001371928.1(AHDC1):c.3005A>G (p.Tyr1002Cys) rs914917557 0.00002
NM_001371928.1(AHDC1):c.1405C>T (p.Arg469Trp) rs1309806240 0.00001
NM_001371928.1(AHDC1):c.3155C>T (p.Thr1052Met) rs1444728315 0.00001
NM_001371928.1(AHDC1):c.3692C>T (p.Pro1231Leu) rs559597076 0.00001
NM_001371928.1(AHDC1):c.3778T>C (p.Tyr1260His) rs774547651 0.00001
NM_001371928.1(AHDC1):c.4562T>C (p.Met1521Thr) rs1363372692 0.00001
NM_001371928.1(AHDC1):c.4583C>T (p.Pro1528Leu) rs761729007 0.00001
NM_001371928.1(AHDC1):c.984G>T (p.Leu328=) rs749199491 0.00001
NC_000001.11:g.27491184_27584566del
NM_001371928.1(AHDC1):c.1034G>T (p.Gly345Val)
NM_001371928.1(AHDC1):c.1080_1111del (p.Glu361fs)
NM_001371928.1(AHDC1):c.1120C>T (p.Pro374Ser)
NM_001371928.1(AHDC1):c.1122del (p.Pro376fs)
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001371928.1(AHDC1):c.1125del (p.Pro376fs)
NM_001371928.1(AHDC1):c.1125dup (p.Pro376fs) rs2148289299
NM_001371928.1(AHDC1):c.1139C>T (p.Pro380Leu)
NM_001371928.1(AHDC1):c.1140del (p.Lys381fs)
NM_001371928.1(AHDC1):c.1167del (p.Arg389fs) rs1553159581
NM_001371928.1(AHDC1):c.1169del (p.Pro390fs) rs1553159575
NM_001371928.1(AHDC1):c.1172A>G (p.Lys391Arg)
NM_001371928.1(AHDC1):c.1181_1182del (p.Cys394fs) rs2148288765
NM_001371928.1(AHDC1):c.1285C>G (p.Pro429Ala) rs2019504014
NM_001371928.1(AHDC1):c.1402dup (p.Cys468fs) rs869312858
NM_001371928.1(AHDC1):c.1414C>T (p.Arg472Trp)
NM_001371928.1(AHDC1):c.1433del (p.Met478fs) rs2019490062
NM_001371928.1(AHDC1):c.1446del (p.Val483fs) rs2148286122
NM_001371928.1(AHDC1):c.1448dup (p.Ser484fs) rs2019488878
NM_001371928.1(AHDC1):c.1481A>G (p.Lys494Arg)
NM_001371928.1(AHDC1):c.1481_1482del (p.Lys494fs) rs2148285877
NM_001371928.1(AHDC1):c.1509C>A (p.Ser503Arg)
NM_001371928.1(AHDC1):c.1519A>T (p.Lys507Ter) rs1553159383
NM_001371928.1(AHDC1):c.1633del (p.Arg545fs)
NM_001371928.1(AHDC1):c.1642G>A (p.Gly548Ser)
NM_001371928.1(AHDC1):c.1653del (p.Lys552fs)
NM_001371928.1(AHDC1):c.1757_1758del (p.Lys586fs) rs1064797043
NM_001371928.1(AHDC1):c.1758dup (p.Arg587fs) rs1064797043
NM_001371928.1(AHDC1):c.1759C>T (p.Arg587Ter) rs886041620
NM_001371928.1(AHDC1):c.1814_1819delinsT (p.Ala605fs) rs2148283415
NM_001371928.1(AHDC1):c.1889dup (p.Arg631fs)
NM_001371928.1(AHDC1):c.1926G>C (p.Glu642Asp) rs761320400
NM_001371928.1(AHDC1):c.1945del (p.Ala649fs) rs796065042
NM_001371928.1(AHDC1):c.2024_2025del (p.Phe675fs)
NM_001371928.1(AHDC1):c.2030del (p.Gly677fs) rs2019449305
NM_001371928.1(AHDC1):c.2032C>T (p.Arg678Trp) rs1557663705
NM_001371928.1(AHDC1):c.2036del (p.Gly679fs) rs2148281776
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001371928.1(AHDC1):c.2092A>G (p.Ile698Val)
NM_001371928.1(AHDC1):c.2132G>A (p.Gly711Glu)
NM_001371928.1(AHDC1):c.2188G>T (p.Glu730Ter) rs2019433712
NM_001371928.1(AHDC1):c.2191_2194del (p.Val731fs) rs1571236369
NM_001371928.1(AHDC1):c.2229del (p.Ser744fs) rs886039900
NM_001371928.1(AHDC1):c.2268del (p.Ser757fs)
NM_001371928.1(AHDC1):c.2324dup (p.Trp776fs)
NM_001371928.1(AHDC1):c.2365C>T (p.Arg789Ter) rs1571235473
NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs) rs587779766
NM_001371928.1(AHDC1):c.2415del (p.Leu806fs) rs2148277718
NM_001371928.1(AHDC1):c.2419G>C (p.Glu807Gln) rs2019411101
NM_001371928.1(AHDC1):c.2424_2425dup (p.Gly809fs) rs2148277610
NM_001371928.1(AHDC1):c.2473C>T (p.Gln825Ter) rs2148277199
NM_001371928.1(AHDC1):c.2520del (p.Arg841fs) rs2148276974
NM_001371928.1(AHDC1):c.2520dup (p.Arg841fs)
NM_001371928.1(AHDC1):c.2547del (p.Ser850fs) rs587779768
NM_001371928.1(AHDC1):c.2572_2573del (p.Ala859fs)
NM_001371928.1(AHDC1):c.2587G>T (p.Glu863Ter)
NM_001371928.1(AHDC1):c.2644C>T (p.Gln882Ter) rs1297310572
NM_001371928.1(AHDC1):c.2651del (p.Gly884fs)
NM_001371928.1(AHDC1):c.2672G>A (p.Arg891Gln)
NM_001371928.1(AHDC1):c.2691del (p.Val898fs) rs886041676
NM_001371928.1(AHDC1):c.2719del (p.Ala907fs) rs2148275240
NM_001371928.1(AHDC1):c.2726C>G (p.Pro909Arg) rs776465786
NM_001371928.1(AHDC1):c.2772del (p.Arg925fs) rs2019386507
NM_001371928.1(AHDC1):c.2773C>T (p.Arg925Ter) rs777736953
NM_001371928.1(AHDC1):c.2789G>A (p.Gly930Glu) rs2148274506
NM_001371928.1(AHDC1):c.2849del (p.Pro950fs) rs2148273933
NM_001371928.1(AHDC1):c.2850G>A (p.Pro950=) rs151218177
NM_001371928.1(AHDC1):c.2882A>T (p.His961Leu)
NM_001371928.1(AHDC1):c.2898del (p.Tyr967fs) rs587779767
NM_001371928.1(AHDC1):c.2908C>T (p.Gln970Ter) rs886041781
NM_001371928.1(AHDC1):c.2932C>T (p.Gln978Ter) rs2148272898
NM_001371928.1(AHDC1):c.2948dup (p.Thr984fs) rs1571232632
NM_001371928.1(AHDC1):c.2951C>G (p.Thr984Ser)
NM_001371928.1(AHDC1):c.2956C>T (p.Pro986Ser)
NM_001371928.1(AHDC1):c.2966G>T (p.Gly989Val) rs1209079898
NM_001371928.1(AHDC1):c.2968C>T (p.Gln990Ter)
NM_001371928.1(AHDC1):c.2992T>A (p.Cys998Ser)
NM_001371928.1(AHDC1):c.3011G>A (p.Ser1004Asn)
NM_001371928.1(AHDC1):c.3025C>G (p.Pro1009Ala)
NM_001371928.1(AHDC1):c.3060_3073del (p.Ala1021fs)
NM_001371928.1(AHDC1):c.3104CCT[1] (p.Ser1036del) rs111827498
NM_001371928.1(AHDC1):c.3168_3169del (p.Cys1056_Asp1057delinsTer) rs1553158517
NM_001371928.1(AHDC1):c.3182del (p.Ser1061fs)
NM_001371928.1(AHDC1):c.3185_3186del (p.Thr1062fs) rs2019349792
NM_001371928.1(AHDC1):c.3204C>G (p.Tyr1068Ter) rs1036650716
NM_001371928.1(AHDC1):c.3234_3242del (p.Thr1079_Ala1081del) rs754444655
NM_001371928.1(AHDC1):c.3254CCT[6] (p.Ser1091del) rs530256606
NM_001371928.1(AHDC1):c.3254CCT[8] (p.Ser1091dup) rs530256606
NM_001371928.1(AHDC1):c.3256T>G (p.Ser1086Ala)
NM_001371928.1(AHDC1):c.3289G>A (p.Glu1097Lys)
NM_001371928.1(AHDC1):c.3376C>T (p.Gln1126Ter)
NM_001371928.1(AHDC1):c.337A>T (p.Asn113Tyr) rs1135401946
NM_001371928.1(AHDC1):c.3451C>T (p.Gln1151Ter)
NM_001371928.1(AHDC1):c.3466C>T (p.Gln1156Ter) rs1557658942
NM_001371928.1(AHDC1):c.3497C>G (p.Ser1166Ter) rs1553158393
NM_001371928.1(AHDC1):c.3505G>A (p.Asp1169Asn)
NM_001371928.1(AHDC1):c.3518T>A (p.Phe1173Tyr) rs2148267606
NM_001371928.1(AHDC1):c.3539G>T (p.Gly1180Val) rs2019324481
NM_001371928.1(AHDC1):c.3543dup (p.Phe1182fs)
NM_001371928.1(AHDC1):c.3544T>G (p.Phe1182Val)
NM_001371928.1(AHDC1):c.3547C>G (p.Arg1183Gly)
NM_001371928.1(AHDC1):c.3547C>T (p.Arg1183Trp) rs923632705
NM_001371928.1(AHDC1):c.3587C>T (p.Ser1196Leu)
NM_001371928.1(AHDC1):c.3623G>A (p.Trp1208Ter) rs1571229515
NM_001371928.1(AHDC1):c.3656G>A (p.Trp1219Ter) rs2148266336
NM_001371928.1(AHDC1):c.3755C>T (p.Ser1252Phe)
NM_001371928.1(AHDC1):c.3773C>G (p.Ser1258Ter) rs2148265222
NM_001371928.1(AHDC1):c.3809del (p.Gln1270fs) rs796065041
NM_001371928.1(AHDC1):c.3814C>T (p.Arg1272Ter) rs1135401761
NM_001371928.1(AHDC1):c.3820G>A (p.Gly1274Arg)
NM_001371928.1(AHDC1):c.3898C>T (p.Gln1300Ter) rs2148263628
NM_001371928.1(AHDC1):c.3989C>A (p.Ser1330Ter) rs199659346
NM_001371928.1(AHDC1):c.4134G>T (p.Lys1378Asn)
NM_001371928.1(AHDC1):c.4254G>A (p.Lys1418=) rs547570973
NM_001371928.1(AHDC1):c.4316C>T (p.Ala1439Val)
NM_001371928.1(AHDC1):c.4318G>A (p.Ala1440Thr)
NM_001371928.1(AHDC1):c.4349C>T (p.Pro1450Leu)
NM_001371928.1(AHDC1):c.4369G>T (p.Asp1457Tyr)
NM_001371928.1(AHDC1):c.4370A>G (p.Asp1457Gly) rs1557655967
NM_001371928.1(AHDC1):c.4404C>A (p.Tyr1468Ter)
NM_001371928.1(AHDC1):c.4423del (p.Arg1475fs) rs2019248120
NM_001371928.1(AHDC1):c.4438del (p.Glu1480fs) rs2148258069
NM_001371928.1(AHDC1):c.4479C>T (p.Gly1493=) rs1414986918
NM_001371928.1(AHDC1):c.4540del (p.Ala1514fs)
NM_001371928.1(AHDC1):c.4546A>G (p.Lys1516Glu)
NM_001371928.1(AHDC1):c.4571C>A (p.Pro1524His)
NM_001371928.1(AHDC1):c.4589dup (p.Ala1532fs)
NM_001371928.1(AHDC1):c.461G>A (p.Arg154His)
NM_001371928.1(AHDC1):c.4679A>T (p.Gln1560Leu) rs1571224398
NM_001371928.1(AHDC1):c.4718C>T (p.Ala1573Val)
NM_001371928.1(AHDC1):c.519_520delinsC (p.Leu173fs)
NM_001371928.1(AHDC1):c.550del (p.Ala184fs) rs1553159979
NM_001371928.1(AHDC1):c.574C>T (p.Arg192Trp)
NM_001371928.1(AHDC1):c.58G>A (p.Asp20Asn)
NM_001371928.1(AHDC1):c.607G>C (p.Glu203Gln) rs1032556769
NM_001371928.1(AHDC1):c.631G>A (p.Gly211Ser)
NM_001371928.1(AHDC1):c.640C>T (p.His214Tyr)
NM_001371928.1(AHDC1):c.643dup (p.Ser215fs) rs2148293420
NM_001371928.1(AHDC1):c.700A>G (p.Thr234Ala)
NM_001371928.1(AHDC1):c.724G>A (p.Ala242Thr) rs772896338
NM_001371928.1(AHDC1):c.732C>G (p.Ile244Met) rs2019549871
NM_001371928.1(AHDC1):c.784C>T (p.Gln262Ter) rs2148292413
NM_001371928.1(AHDC1):c.809del (p.Glu270fs)
NM_001371928.1(AHDC1):c.898dup (p.Leu300fs)
NM_001371928.1(AHDC1):c.932del (p.Gly311fs) rs1553159764
NM_001371928.1(AHDC1):c.944dup (p.Ala316fs) rs1571242436
NM_001371928.1(AHDC1):c.979C>T (p.Gln327Ter) rs1553159753
NM_001371928.1(AHDC1):c.994C>T (p.Gln332Ter) rs1571242220

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