ClinVar Miner

List of variants in gene CDKN1C reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167 0.01351
NM_001122630.2(CDKN1C):c.-11+61G>A rs188494894 0.00603
NM_001122630.2(CDKN1C):c.-132G>A rs147317732 0.00329
NM_001122630.2(CDKN1C):c.702G>A (p.Gly234=) rs556682082 0.00065
NM_001122630.2(CDKN1C):c.423G>A (p.Pro141=) rs878853626 0.00044
NM_001122630.2(CDKN1C):c.411G>A (p.Pro137=) rs878853625 0.00022
NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=) rs794726872 0.00004
NM_001122630.2(CDKN1C):c.597C>G (p.Pro199=) rs767656648 0.00004
NM_001122630.2(CDKN1C):c.*111C>T
NM_001122630.2(CDKN1C):c.*5+23_*5+24dup
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[4] (p.152APVA[4]) rs565544512
NM_001122630.2(CDKN1C):c.504CCCGGC[1] (p.168AP[6]) rs878853629
NM_001122630.2(CDKN1C):c.504CCCGGC[2] (p.168AP[7]) rs878853629
NM_001122630.2(CDKN1C):c.525_548del (p.168_169AP[4]) rs878853630
NM_001122630.2(CDKN1C):c.567A>C (p.Pro189=) rs529326848
NM_001122630.2(CDKN1C):c.567_578del (p.186_187AP[8]) rs878853634
NM_001122630.2(CDKN1C):c.567_578dup (p.186_187AP[12]) rs878853634
NM_001122630.2(CDKN1C):c.573G>A (p.Pro191=) rs1396908491
NM_001122630.2(CDKN1C):c.585G>C (p.Pro195=) rs1060503858
NM_001122630.2(CDKN1C):c.591G>C (p.Pro197=)
NM_001122630.2(CDKN1C):c.599CCCCGG[4] (p.186AP[11]) rs772704243
NM_001122630.2(CDKN1C):c.603G>C (p.Pro201=)
NM_001122630.2(CDKN1C):c.609G>C (p.Pro203=)

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