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

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 68

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HGVS	dbSNP	gnomAD frequency
NC_000001.11:g.27491184_27584566del
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.1889dup (p.Arg631fs)
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.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.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.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.4540del (p.Ala1514fs)
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.898dup (p.Leu300fs)
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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