List of variants studied for Oculocerebrodental syndrome by Genome-Nilou Lab

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002645.4(PIK3C2A):c.1239A>G (p.Ala413=)	rs2302511	0.94735
NM_002645.4(PIK3C2A):c.*13T>C	rs10832733	0.57555
NM_002645.4(PIK3C2A):c.3681+46G>A	rs2052188	0.42654
NM_002645.4(PIK3C2A):c.270T>C (p.Ile90=)	rs214936	0.42543
NM_002645.4(PIK3C2A):c.3036-37C>A	rs147891939	0.24758
NM_002645.4(PIK3C2A):c.4243A>G (p.Thr1415Ala)	rs11604561	0.11089

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