ClinVar Miner

List of variants in gene AHDC1 reported as benign for AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

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Gene type:
ClinVar version:
Total variants: 58
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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.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.1146C>T (p.Tyr382=) rs200228240 0.00005
NM_001371928.1(AHDC1):c.3630G>T (p.Glu1210Asp) rs371337420 0.00004
NM_001371928.1(AHDC1):c.984G>T (p.Leu328=) rs749199491 0.00001
NM_001371928.1(AHDC1):c.2726C>G (p.Pro909Arg) rs776465786
NM_001371928.1(AHDC1):c.2850G>A (p.Pro950=) rs151218177
NM_001371928.1(AHDC1):c.3011G>A (p.Ser1004Asn)
NM_001371928.1(AHDC1):c.3104CCT[1] (p.Ser1036del) rs111827498
NM_001371928.1(AHDC1):c.3234_3242del (p.Thr1079_Ala1081del) rs754444655
NM_001371928.1(AHDC1):c.4254G>A (p.Lys1418=) rs547570973
NM_001371928.1(AHDC1):c.4349C>T (p.Pro1450Leu)

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