ClinVar Miner

List of variants in gene CDKN1C studied for IMAGe syndrome

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Total variants: 16
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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.*5+18dup rs34289096
NM_001122630.2(CDKN1C):c.782T>G (p.Ile261Ser) rs515726203
NM_001122630.2(CDKN1C):c.787+2T>A rs1554937698
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.802C>A (p.Arg268Ser) rs1848883206
NM_001122630.2(CDKN1C):c.803G>C (p.Arg268Pro) rs318240750
NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu) rs318240750
NM_001122630.2(CDKN1C):c.809G>T (p.Arg270Ile) rs886037912
NM_001122630.2(CDKN1C):c.820G>A (p.Glu274Lys)

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