List of variants studied for CHARGE syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp)	rs200441929	0.00003
NM_017780.4(CHD7):c.1546C>T (p.Pro516Ser)
NM_017780.4(CHD7):c.2398C>T (p.Pro800Ser)
NM_017780.4(CHD7):c.2815G>T (p.Glu939Ter)	rs587783434
NM_017780.4(CHD7):c.2990del (p.Leu997fs)	rs1554597677
NM_017780.4(CHD7):c.3347A>G (p.Lys1116Arg)	rs750214154
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter)	rs886040991
NM_017780.4(CHD7):c.5404G>A (p.Gly1802Ser)	rs1554603293
NM_017780.4(CHD7):c.5405-17G>A	rs794727423
NM_017780.4(CHD7):c.5893A>C (p.Lys1965Gln)
NM_017780.4(CHD7):c.604C>T (p.Gln202Ter)	rs1554581277
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter)	rs886040995
NM_017780.4(CHD7):c.6371T>C (p.Phe2124Ser)
NM_017780.4(CHD7):c.6638C>G (p.Ser2213Cys)
NM_017780.4(CHD7):c.7711_7718del (p.Val2571fs)
NM_017780.4(CHD7):c.8286G>T (p.Gln2762His)	rs758898311
NM_017780.4(CHD7):c.8470A>C (p.Thr2824Pro)

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