List of variants studied for CHARGE syndrome by Laboratoire de Genetique Biologique, CHU de Poitiers

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_017780.4(CHD7):c.3905T>C (p.Leu1302Pro)	rs1563643394
NM_017780.4(CHD7):c.5405-13G>A	rs1131690787
NM_017780.4(CHD7):c.5405-17G>A	rs794727423
NM_017780.4(CHD7):c.5405-18C>A	rs199981784
NM_017780.4(CHD7):c.5405-2A>G	rs1131692153
NM_017780.4(CHD7):c.5405-7G>A	rs398124321
NM_017780.4(CHD7):c.5944G>T (p.Gly1982Trp)	rs1563659678
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys)	rs121434341

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