ClinVar Miner

List of variants in gene CDKN1C studied for not provided

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Gene type:
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Total variants: 82
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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.-11+61G>A rs188494894 0.00603
NM_001122630.2(CDKN1C):c.787+142C>T rs534934487 0.00417
NM_001122630.2(CDKN1C):c.-132G>A rs147317732 0.00329
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.702G>A (p.Gly234=) rs556682082 0.00065
NM_001122630.2(CDKN1C):c.423G>A (p.Pro141=) rs878853626 0.00044
NM_001122630.2(CDKN1C):c.319C>G (p.Pro107Ala) rs772684721 0.00023
NM_001122630.2(CDKN1C):c.411G>A (p.Pro137=) rs878853625 0.00022
NM_001122630.2(CDKN1C):c.367G>C (p.Glu123Gln) rs1013695050 0.00019
NM_001122630.2(CDKN1C):c.669C>G (p.Gly223=) rs546016935 0.00017
NM_001122630.2(CDKN1C):c.551T>C (p.Val184Ala) rs1261515352 0.00016
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.597C>G (p.Pro199=) rs767656648 0.00004
NM_001122630.2(CDKN1C):c.193C>T (p.Arg65Cys) rs750526402 0.00002
NM_001122630.2(CDKN1C):c.-10-13C>T rs201368350 0.00001
NM_001122630.2(CDKN1C):c.165G>T (p.Gln55His) rs1424141761 0.00001
NM_001122630.2(CDKN1C):c.797C>T (p.Ala266Val) rs1307229121 0.00001
NM_001122630.2(CDKN1C):c.97C>T (p.Arg33Cys) rs956525226 0.00001
NM_001122630.2(CDKN1C):c.*111C>T
NM_001122630.2(CDKN1C):c.*145T>C rs1240499527
NM_001122630.2(CDKN1C):c.*5+18dup rs34289096
NM_001122630.2(CDKN1C):c.*5+23_*5+24dup
NM_001122630.2(CDKN1C):c.-10-4G>A rs2133786706
NM_001122630.2(CDKN1C):c.100G>A (p.Glu34Lys) rs1848977184
NM_001122630.2(CDKN1C):c.176C>T (p.Pro59Leu) rs483352970
NM_001122630.2(CDKN1C):c.182G>A (p.Arg61Gln) rs1238182415
NM_001122630.2(CDKN1C):c.187C>T (p.Pro63Ser)
NM_001122630.2(CDKN1C):c.239A>G (p.Tyr80Cys)
NM_001122630.2(CDKN1C):c.327G>C (p.Glu109Asp) rs1848962147
NM_001122630.2(CDKN1C):c.383TCCCGG[1] (p.128VP[1]) rs1848956788
NM_001122630.2(CDKN1C):c.385C>T (p.Pro129Ser) rs1848957482
NM_001122630.2(CDKN1C):c.388del (p.Val130fs)
NM_001122630.2(CDKN1C):c.398del (p.Pro133fs) rs1554938069
NM_001122630.2(CDKN1C):c.400_401insA (p.Ala134fs) rs1848955968
NM_001122630.2(CDKN1C):c.401_402del (p.Ala134fs) rs1848955612
NM_001122630.2(CDKN1C):c.425_442dup (p.Val142_Pro147dup) rs1443296311
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.472G>A (p.Val158Ile) rs1848947864
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.504CCCGGC[4] (p.168AP[9]) rs878853629
NM_001122630.2(CDKN1C):c.522TCCGGC[2] (p.168AP[7]) rs878853632
NM_001122630.2(CDKN1C):c.522_523insGCGGCT (p.Ala174_Pro175insAlaAla) rs2133783914
NM_001122630.2(CDKN1C):c.525_548del (p.168_169AP[4]) rs878853630
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.567_584del (p.186_187AP[7]) rs878853636
NM_001122630.2(CDKN1C):c.567_590del (p.186_187AP[6]) rs878853637
NM_001122630.2(CDKN1C):c.570C>G (p.Ala190=) rs1590149634
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[3] (p.186AP[9]) rs759134767
NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11]) rs759134767
NM_001122630.2(CDKN1C):c.573_574del (p.Ala192fs) rs1564929735
NM_001122630.2(CDKN1C):c.58C>A (p.Arg20Ser) rs1467420956
NM_001122630.2(CDKN1C):c.590del (p.Pro197fs) rs2133783113
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.599_600insACCGGC (p.186_187AP[11]) rs771450542
NM_001122630.2(CDKN1C):c.603G>C (p.Pro201=)
NM_001122630.2(CDKN1C):c.609G>C (p.Pro203=)
NM_001122630.2(CDKN1C):c.656del (p.Gln219fs) rs1554937790
NM_001122630.2(CDKN1C):c.65T>G (p.Leu22Arg)
NM_001122630.2(CDKN1C):c.670C>T (p.Gln224Ter) rs483352989
NM_001122630.2(CDKN1C):c.74C>G (p.Pro25Arg) rs1564930749
NM_001122630.2(CDKN1C):c.787+5G>A
NM_001122630.2(CDKN1C):c.794T>C (p.Phe265Ser) rs387907224
NM_001122630.2(CDKN1C):c.7_8insAAGA (p.Arg3fs) rs1564930866
NM_001122630.2(CDKN1C):c.802C>A (p.Arg268Ser) rs1848883206
NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter) rs267606716
NM_001122630.2(CDKN1C):c.842C>T (p.Pro281Leu)
NM_001122630.2(CDKN1C):c.852T>C (p.Cys284=) rs1564928644
NM_001122630.2(CDKN1C):c.854C>A (p.Pro285His)
NM_001122630.2(CDKN1C):c.884C>A (p.Ser295Ter)
NM_001122630.2(CDKN1C):c.88_89delinsTT (p.Glu30Leu) rs2133786273

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