List of variants studied for Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome by Genome-Nilou Lab

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_014423.4(AFF4):c.1227-69dup	rs34099243	0.88635
NM_014423.4(AFF4):c.2397-37T>C	rs11739417	0.21295
NM_014423.4(AFF4):c.3143+20G>A	rs45441396	0.15163
NM_014423.4(AFF4):c.2007C>T (p.Pro669=)	rs739863	0.11172
NM_014423.4(AFF4):c.1051-55A>G	rs12517073	0.11170
NM_014423.4(AFF4):c.3144-52T>A	rs997633	0.11168
NM_014423.4(AFF4):c.963+11T>A	rs56157864	0.11145
NM_014423.4(AFF4):c.819G>A (p.Glu273=)	rs141383886	0.00480
NM_014423.4(AFF4):c.554A>T (p.Gln185Leu)	rs137880283	0.00297
NM_014423.4(AFF4):c.3319A>G (p.Thr1107Ala)	rs139490054	0.00217
NM_014423.4(AFF4):c.1530C>T (p.Gly510=)	rs139523666	0.00121
NM_014423.4(AFF4):c.830G>C (p.Ser277Thr)	rs141068875	0.00073
NM_014423.4(AFF4):c.2445C>T (p.Pro815=)	rs138116584	0.00010
NM_014423.4(AFF4):c.1051-17A>C	rs55844143
NM_014423.4(AFF4):c.1227-99del	rs34333760
NM_014423.4(AFF4):c.963+12dup	rs56817345

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