ClinVar Miner

List of variants reported as pathogenic for IMAGe syndrome

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Total variants: 5
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HGVS dbSNP gnomAD frequency
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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