ClinVar Miner

List of variants in gene AHDC1 reported as pathogenic for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.1181_1182del (p.Cys394fs) rs2148288765
NM_001371928.1(AHDC1):c.1446del (p.Val483fs) rs2148286122
NM_001371928.1(AHDC1):c.1448dup (p.Ser484fs) rs2019488878
NM_001371928.1(AHDC1):c.1481_1482del (p.Lys494fs) rs2148285877
NM_001371928.1(AHDC1):c.1519A>T (p.Lys507Ter) rs1553159383
NM_001371928.1(AHDC1):c.1653del (p.Lys552fs)
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.1945del (p.Ala649fs) rs796065042
NM_001371928.1(AHDC1):c.2030del (p.Gly677fs) rs2019449305
NM_001371928.1(AHDC1):c.2036del (p.Gly679fs) rs2148281776
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
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.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.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.2547del (p.Ser850fs) rs587779768
NM_001371928.1(AHDC1):c.2644C>T (p.Gln882Ter) rs1297310572
NM_001371928.1(AHDC1):c.2651del (p.Gly884fs)
NM_001371928.1(AHDC1):c.2691del (p.Val898fs) rs886041676
NM_001371928.1(AHDC1):c.2719del (p.Ala907fs) rs2148275240
NM_001371928.1(AHDC1):c.2773C>T (p.Arg925Ter) rs777736953
NM_001371928.1(AHDC1):c.2849del (p.Pro950fs) rs2148273933
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.2968C>T (p.Gln990Ter)
NM_001371928.1(AHDC1):c.3060_3073del (p.Ala1021fs)
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.3376C>T (p.Gln1126Ter)
NM_001371928.1(AHDC1):c.3384C>A (p.Tyr1128Ter) rs2019335082
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.3543dup (p.Phe1182fs)
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.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.3989C>A (p.Ser1330Ter) rs199659346
NM_001371928.1(AHDC1):c.4370A>G (p.Asp1457Gly) rs1557655967
NM_001371928.1(AHDC1):c.4423del (p.Arg1475fs) rs2019248120
NM_001371928.1(AHDC1):c.4438del (p.Glu1480fs) rs2148258069
NM_001371928.1(AHDC1):c.550del (p.Ala184fs) rs1553159979
NM_001371928.1(AHDC1):c.643dup (p.Ser215fs) rs2148293420
NM_001371928.1(AHDC1):c.784C>T (p.Gln262Ter) rs2148292413
NM_001371928.1(AHDC1):c.809del (p.Glu270fs)
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
NM_001371928.1(AHDC1):c.997del (p.Ala333fs) rs1557667078

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.