ClinVar Miner

List of variants reported as uncertain significance for IMAGe syndrome

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001122630.2(CDKN1C):c.-11+61G>A rs188494894 0.00603
NM_001122630.2(CDKN1C):c.853C>T (p.Pro285Ser) rs531059713 0.00007
NM_001122630.2(CDKN1C):c.316C>T (p.Pro106Ser) rs570636789 0.00004
NM_001122630.2(CDKN1C):c.820G>A (p.Glu274Lys)

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