List of variants reported as uncertain significance for AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001371928.1(AHDC1):c.4718C>T (p.Ala1573Val)	rs371087154	0.00002
NM_001371928.1(AHDC1):c.700A>G (p.Thr234Ala)	rs774922077	0.00001
NM_001371928.1(AHDC1):c.1120C>T (p.Pro374Ser)	rs751206046
NM_001371928.1(AHDC1):c.1481A>G (p.Lys494Arg)
NM_001371928.1(AHDC1):c.1509C>A (p.Ser503Arg)
NM_001371928.1(AHDC1):c.2992T>A (p.Cys998Ser)
NM_001371928.1(AHDC1):c.3254C>T (p.Ala1085Val)	rs2521881333
NM_001371928.1(AHDC1):c.3755C>T (p.Ser1252Phe)
NM_001371928.1(AHDC1):c.4571C>A (p.Pro1524His)	rs2521783316

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