ClinVar Miner

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

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001371928.1(AHDC1):c.4237C>T (p.Arg1413Trp) rs777716141 0.00006
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.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.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.1034G>T (p.Gly345Val)
NM_001371928.1(AHDC1):c.1139C>T (p.Pro380Leu)
NM_001371928.1(AHDC1):c.1285C>G (p.Pro429Ala) rs2019504014
NM_001371928.1(AHDC1):c.1926G>C (p.Glu642Asp) rs761320400
NM_001371928.1(AHDC1):c.2032C>T (p.Arg678Trp) rs1557663705
NM_001371928.1(AHDC1):c.2132G>A (p.Gly711Glu)
NM_001371928.1(AHDC1):c.2419G>C (p.Glu807Gln) rs2019411101
NM_001371928.1(AHDC1):c.2587G>T (p.Glu863Ter)
NM_001371928.1(AHDC1):c.2672G>A (p.Arg891Gln)
NM_001371928.1(AHDC1):c.2789G>A (p.Gly930Glu) rs2148274506
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.3254CCT[6] (p.Ser1091del) rs530256606
NM_001371928.1(AHDC1):c.3256T>G (p.Ser1086Ala)
NM_001371928.1(AHDC1):c.3289G>A (p.Glu1097Lys)
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.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.3820G>A (p.Gly1274Arg)
NM_001371928.1(AHDC1):c.4134G>T (p.Lys1378Asn)
NM_001371928.1(AHDC1):c.4316C>T (p.Ala1439Val)
NM_001371928.1(AHDC1):c.4349C>T (p.Pro1450Leu)
NM_001371928.1(AHDC1):c.4479C>T (p.Gly1493=) rs1414986918
NM_001371928.1(AHDC1):c.4546A>G (p.Lys1516Glu)
NM_001371928.1(AHDC1):c.461G>A (p.Arg154His)
NM_001371928.1(AHDC1):c.4679A>T (p.Gln1560Leu) rs1571224398
NM_001371928.1(AHDC1):c.574C>T (p.Arg192Trp)
NM_001371928.1(AHDC1):c.58G>A (p.Asp20Asn)
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

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