List of variants reported as pathogenic for IMAGe syndrome

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001122630.2(CDKN1C):c.410del (p.Pro137fs)	rs2133784748
NM_001122630.2(CDKN1C):c.670C>T (p.Gln224Ter)	rs483352989
NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn)	rs387907225
NM_001122630.2(CDKN1C):c.793T>G (p.Phe265Val)	rs387907223
NM_001122630.2(CDKN1C):c.794T>C (p.Phe265Ser)	rs387907224
NM_001122630.2(CDKN1C):c.799A>G (p.Lys267Glu)	rs387907226
NM_001122630.2(CDKN1C):c.803G>C (p.Arg268Pro)	rs318240750

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