ClinVar Miner

List of variants in gene CDKN1C reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001122630.2(CDKN1C):c.522T>C (p.Ala174=) rs191294997 0.26852
NM_001122630.2(CDKN1C):c.567A>G (p.Pro189=) rs529326848 0.03671
NM_001122630.2(CDKN1C):c.-11+60G>A rs143992355 0.02792
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167 0.01351
NM_001122630.2(CDKN1C):c.99C>T (p.Arg33=) rs149717696 0.00208
NM_001122630.2(CDKN1C):c.675G>A (p.Glu225=) rs3741341 0.00183
NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=) rs540923047 0.00143
NM_001122630.2(CDKN1C):c.423G>A (p.Pro141=) rs878853626 0.00044
NM_001122630.2(CDKN1C):c.213G>A (p.Val71=) rs141005361 0.00026
NM_001122630.2(CDKN1C):c.319C>G (p.Pro107Ala) rs772684721 0.00023
NM_001122630.2(CDKN1C):c.320C>T (p.Pro107Leu) rs771731330 0.00013
NM_001122630.2(CDKN1C):c.876C>T (p.Gly292=) rs377216794 0.00009
NM_001122630.2(CDKN1C):c.534T>C (p.Ala178=) rs112196492 0.00004
NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=) rs794726872 0.00004
NM_001122630.2(CDKN1C):c.138C>T (p.Asp46=) rs777465972 0.00002
NM_001122630.2(CDKN1C):c.45C>T (p.Arg15=) rs1360965916 0.00002
NM_001122630.2(CDKN1C):c.540C>A (p.Ala180=) rs1429391694 0.00002
NM_001122630.2(CDKN1C):c.577C>G (p.Pro193Ala) rs1345683292 0.00002
NM_001122630.2(CDKN1C):c.827C>T (p.Ser276Leu) rs928007699 0.00002
NM_001122630.2(CDKN1C):c.362C>T (p.Ala121Val) rs1364155293 0.00001
NM_001122630.2(CDKN1C):c.*5+13C>T
NM_001122630.2(CDKN1C):c.*5+15C>T
NM_001122630.2(CDKN1C):c.*5+18dup rs34289096
NM_001122630.2(CDKN1C):c.*6-4G>A
NM_001122630.2(CDKN1C):c.*6-5C>T
NM_001122630.2(CDKN1C):c.-10-24del
NM_001122630.2(CDKN1C):c.-10-26G>T
NM_001122630.2(CDKN1C):c.105G>T (p.Leu35=) rs762337324
NM_001122630.2(CDKN1C):c.43C>G (p.Arg15Gly) rs765255367
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[2] (p.152APVA[2]) rs565544512
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[4] (p.152APVA[4]) rs565544512
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[5] (p.152APVA[5]) rs565544512
NM_001122630.2(CDKN1C):c.504_521del (p.168_169AP[5]) rs878853629
NM_001122630.2(CDKN1C):c.516C>T (p.Ala172=) rs1462682672
NM_001122630.2(CDKN1C):c.522TCCGGC[2] (p.168AP[7]) rs878853632
NM_001122630.2(CDKN1C):c.522_587dup (p.Val184_Pro205dup) rs2133783144
NM_001122630.2(CDKN1C):c.540_545dup (p.168_169AP[9]) rs1302209410
NM_001122630.2(CDKN1C):c.546_569del (p.Val184_Pro191del) rs1590149645
NM_001122630.2(CDKN1C):c.546_593del (p.Val184_Pro199del)
NM_001122630.2(CDKN1C):c.555GGCCCC[1] (p.186AP[9]) rs1060503855
NM_001122630.2(CDKN1C):c.561G>A (p.Pro187=) rs1848937184
NM_001122630.2(CDKN1C):c.567_572del (p.186_187AP[9]) rs1060503860
NM_001122630.2(CDKN1C):c.567_578del (p.186_187AP[8]) rs878853634
NM_001122630.2(CDKN1C):c.573G>A (p.Pro191=) rs1396908491
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8]) rs759134767
NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11]) rs759134767
NM_001122630.2(CDKN1C):c.596C>G (p.Pro199Arg)
NM_001122630.2(CDKN1C):c.597_608dup (p.186_187AP[12]) rs1380480846
NM_001122630.2(CDKN1C):c.597_614del (p.186_187AP[7]) rs747360016
NM_001122630.2(CDKN1C):c.661C>T (p.Gln221Ter) rs797045445
NM_001122630.2(CDKN1C):c.725_736del (p.Gly242_Ala245del) rs1341703910
NM_001122630.2(CDKN1C):c.787+7C>A rs1848914279
NM_001122630.2(CDKN1C):c.812_815dup (p.Pro273fs)

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