List of variants reported as pathogenic for syndromic intellectual disability by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs)	rs749294057
NM_001371928.1(AHDC1):c.1446del (p.Val483fs)	rs2148286122
NM_001371928.1(AHDC1):c.1759C>T (p.Arg587Ter)	rs886041620
NM_001371928.1(AHDC1):c.1945del (p.Ala649fs)	rs796065042
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.2229del (p.Ser744fs)	rs886039900
NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs)	rs587779766
NM_001371928.1(AHDC1):c.2415del (p.Leu806fs)	rs2148277718
NM_001371928.1(AHDC1):c.2473C>T (p.Gln825Ter)	rs2148277199
NM_001371928.1(AHDC1):c.2520del (p.Arg841fs)	rs2148276974
NM_001371928.1(AHDC1):c.2644C>T (p.Gln882Ter)	rs1297310572
NM_001371928.1(AHDC1):c.2691del (p.Val898fs)	rs886041676
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.3204C>G (p.Tyr1068Ter)	rs1036650716
NM_001371928.1(AHDC1):c.3466C>T (p.Gln1156Ter)	rs1557658942
NM_001371928.1(AHDC1):c.3773C>G (p.Ser1258Ter)	rs2148265222
NM_001371928.1(AHDC1):c.3809del (p.Gln1270fs)	rs796065041
NM_001371928.1(AHDC1):c.3989C>A (p.Ser1330Ter)	rs199659346
NM_001371928.1(AHDC1):c.4438del (p.Glu1480fs)	rs2148258069
NM_001371928.1(AHDC1):c.643dup (p.Ser215fs)	rs2148293420
NM_001371928.1(AHDC1):c.784C>T (p.Gln262Ter)	rs2148292413
NM_001371928.1(AHDC1):c.979C>T (p.Gln327Ter)	rs1553159753

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