ClinVar Miner

List of variants reported as likely benign for IMAGe syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001122630.2(CDKN1C):c.99C>T (p.Arg33=) rs149717696 0.00208
NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=) rs540923047 0.00143
NM_001122630.2(CDKN1C):c.213G>A (p.Val71=) rs141005361 0.00026
NM_001122630.2(CDKN1C):c.105G>A (p.Leu35=) rs762337324 0.00003
NM_001122630.2(CDKN1C):c.225G>C (p.Ser75=) rs1015104953 0.00003
NM_001122630.2(CDKN1C):c.51C>T (p.Ser17=) rs1216953646 0.00002
NM_001122630.2(CDKN1C):c.291C>T (p.Pro97=) rs534471786 0.00001
NM_001122630.2(CDKN1C):c.354C>T (p.Leu118=) rs1426804435 0.00001
NM_001122630.2(CDKN1C):c.564C>T (p.Ala188=) rs1554937891 0.00001
NM_001122630.2(CDKN1C):c.567_596dup (p.186_187AP[15]) rs1064792990
NM_001122630.2(CDKN1C):c.587_616dup (p.186_187AP[15]) rs878853638
NM_001122630.2(CDKN1C):c.828G>C (p.Ser276=) rs373252940

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