List of variants reported as likely pathogenic for CHARGE syndrome by 3billion

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_017780.4(CHD7):c.201del (p.His68fs)
NM_017780.4(CHD7):c.2442+1G>A	rs1085307582
NM_017780.4(CHD7):c.2998dup (p.Thr1000fs)
NM_017780.4(CHD7):c.3310_3311del (p.Val1103_Ile1104insTer)
NM_017780.4(CHD7):c.4505del (p.Glu1501_Ser1502insTer)
NM_017780.4(CHD7):c.4995G>A (p.Trp1665Ter)	rs1487550618
NM_017780.4(CHD7):c.5210+1G>A	rs2150794309
NM_017780.4(CHD7):c.5955del (p.Phe1985fs)	rs2488035644
NM_017780.4(CHD7):c.6208dup (p.His2070fs)	rs2488040230
NM_017780.4(CHD7):c.7164+1G>A	rs2129644267
NM_017780.4(CHD7):c.8077-10T>A

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