List of variants studied for CHARGE syndrome by Mendelics

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser)	rs141947938	0.00470
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly)	rs61995713	0.00290
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)	rs192129249	0.00267
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met)	rs201032343	0.00062
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)	rs377139749
NM_017780.4(CHD7):c.2817G>T (p.Glu939Asp)	rs1586389578
NM_017780.4(CHD7):c.2957+5G>A	rs1586390236
NM_017780.4(CHD7):c.4195A>G (p.Arg1399Gly)	rs1586419356
NM_017780.4(CHD7):c.5050+1G>C	rs1554602466
NM_017780.4(CHD7):c.5051-1G>A	rs1586432203
NM_017780.4(CHD7):c.5405-7G>A	rs398124321
NM_017780.4(CHD7):c.5879_5880del (p.Ile1959_Ser1960insTer)	rs2150808082
NM_017780.4(CHD7):c.5909_5910insTC (p.Glu1970fs)	rs2150808678
NM_017780.4(CHD7):c.5914dup (p.Ala1972fs)	rs1586444410
NM_017780.4(CHD7):c.7246A>T (p.Lys2416Ter)	rs1586452965
NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter)	rs748504264

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