ClinVar Miner

List of variants in gene CDKN1C reported as likely benign for Beckwith-Wiedemann syndrome

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Total variants: 122
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HGVS dbSNP
NM_000076.2(CDKN1C):c.500_523del rs565544512
NM_000076.2(CDKN1C):c.526_531del rs889984547
NM_000076.2(CDKN1C):c.543_554del rs878853629
NM_000076.2(CDKN1C):c.549_554dup rs878853629
NM_000076.2(CDKN1C):c.594_599del rs1060503855
NM_000076.2(CDKN1C):c.594_599dup rs1060503855
NM_000076.2(CDKN1C):c.612_629del rs759134767
NM_000076.2(CDKN1C):c.638_649del rs772704243
NM_000076.2(CDKN1C):c.644_649del rs772704243
NM_000076.2(CDKN1C):c.820+10G>A rs777855717
NM_000076.2(CDKN1C):c.821-5C>G rs775227462
NM_000076.2(CDKN1C):c.821-5C>T rs775227462
NM_001122630.2(CDKN1C):c.-10-12G>C rs1220484886
NM_001122630.2(CDKN1C):c.-10-15C>T rs1352961367
NM_001122630.2(CDKN1C):c.-1G>T rs780549417
NM_001122630.2(CDKN1C):c.138C>T (p.Asp46=) rs777465972
NM_001122630.2(CDKN1C):c.177G>T (p.Pro59=) rs1441014990
NM_001122630.2(CDKN1C):c.207C>T (p.Thr69=) rs1310156157
NM_001122630.2(CDKN1C):c.213G>A (p.Val71=) rs141005361
NM_001122630.2(CDKN1C):c.219C>T (p.Ser73=) rs1295465465
NM_001122630.2(CDKN1C):c.225G>C (p.Ser75=) rs1015104953
NM_001122630.2(CDKN1C):c.303G>C (p.Ala101=) rs931922290
NM_001122630.2(CDKN1C):c.303G>T (p.Ala101=) rs931922290
NM_001122630.2(CDKN1C):c.312C>A (p.Val104=) rs770277810
NM_001122630.2(CDKN1C):c.320C>T (p.Pro107Leu) rs771731330
NM_001122630.2(CDKN1C):c.351C>T (p.Gly117=) rs1465084800
NM_001122630.2(CDKN1C):c.354C>T (p.Leu118=) rs1426804435
NM_001122630.2(CDKN1C):c.405C>G (p.Ser135=) rs1554938064
NM_001122630.2(CDKN1C):c.411G>A (p.Pro137=) rs878853625
NM_001122630.2(CDKN1C):c.417A>T (p.Pro139=) rs1486402339
NM_001122630.2(CDKN1C):c.423G>A (p.Pro141=) rs878853626
NM_001122630.2(CDKN1C):c.435A>G (p.Pro145=) rs1381073956
NM_001122630.2(CDKN1C):c.438_449del (p.144_145AP[3]) rs1301544231
NM_001122630.2(CDKN1C):c.450T>A (p.Ala150=) rs898729531
NM_001122630.2(CDKN1C):c.45C>T (p.Arg15=) rs1360965916
NM_001122630.2(CDKN1C):c.461_466del (p.Val154_Ala155del) rs878853627
NM_001122630.2(CDKN1C):c.479_484del (p.Ala160_Pro161del) rs1324090653
NM_001122630.2(CDKN1C):c.479_496del (p.Ala160_Ala165del) rs1064792992
NM_001122630.2(CDKN1C):c.480T>C (p.Ala160=) rs1463366525
NM_001122630.2(CDKN1C):c.487_492GCGGTC[3] (p.163_164AV[3]) rs889984547
NM_001122630.2(CDKN1C):c.492C>G (p.Val164=) rs878853628
NM_001122630.2(CDKN1C):c.493_494delinsCT (p.Ala165Leu) rs1554937984
NM_001122630.2(CDKN1C):c.497T>C (p.Val166Ala) rs1288020047
NM_001122630.2(CDKN1C):c.500T>C (p.Leu167Pro) rs1060500177
NM_001122630.2(CDKN1C):c.504_521del (p.168_169AP[5]) rs878853629
NM_001122630.2(CDKN1C):c.510C>T (p.Ala170=) rs1476496963
NM_001122630.2(CDKN1C):c.510_527del (p.168_169AP[5]) rs1064792991
NM_001122630.2(CDKN1C):c.510_533del (p.168_169AP[4]) rs1486933065
NM_001122630.2(CDKN1C):c.516_527del (p.168_169AP[6]) rs1249284743
NM_001122630.2(CDKN1C):c.525_548del (p.168_169AP[4]) rs878853630
NM_001122630.2(CDKN1C):c.525_548dup (p.168_169AP[12]) rs878853630
NM_001122630.2(CDKN1C):c.527_528insCCCGGC (p.168_169AP[9]) rs878853631
NM_001122630.2(CDKN1C):c.527_528insCCCGGCCCCGGC (p.168_169AP[10]) rs878853631
NM_001122630.2(CDKN1C):c.528T>C (p.Ala176=) rs384713
NM_001122630.2(CDKN1C):c.531_548del (p.168_169AP[5]) rs1590149766
NM_001122630.2(CDKN1C):c.531_548dup (p.168_169AP[11]) rs1590149766
NM_001122630.2(CDKN1C):c.534T>C (p.Ala178=) rs112196492
NM_001122630.2(CDKN1C):c.537G>C (p.Pro179=) rs550978405
NM_001122630.2(CDKN1C):c.537_548dup (p.168_169AP[10]) rs997267634
NM_001122630.2(CDKN1C):c.539_540insTCCGTC (p.Ala182_Pro183insSerPro) rs1590149802
NM_001122630.2(CDKN1C):c.540_545dup (p.168_169AP[9]) rs1302209410
NM_001122630.2(CDKN1C):c.546T>C (p.Ala182=) rs1412788622
NM_001122630.2(CDKN1C):c.546_563del (p.Val184_Pro189del) rs1203797892
NM_001122630.2(CDKN1C):c.546_569del (p.Val184_Pro191del) rs1590149645
NM_001122630.2(CDKN1C):c.546_581del (p.Val184_Pro195del) rs1554937877
NM_001122630.2(CDKN1C):c.552C>T (p.Val184=) rs1590149737
NM_001122630.2(CDKN1C):c.564C>T (p.Ala188=) rs1554937891
NM_001122630.2(CDKN1C):c.567_572dup (p.186_187AP[11]) rs1060503860
NM_001122630.2(CDKN1C):c.567_590dup (p.186_187AP[14]) rs878853637
NM_001122630.2(CDKN1C):c.567_596del (p.186_187AP[5]) rs1064792990
NM_001122630.2(CDKN1C):c.567_596dup (p.186_187AP[15]) rs1064792990
NM_001122630.2(CDKN1C):c.573_578GGCCCC[3] (p.186_187AP[9]) rs759134767
NM_001122630.2(CDKN1C):c.573_578GGCCCC[6] (p.186_187AP[12]) rs759134767
NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=) rs794726872
NM_001122630.2(CDKN1C):c.57C>T (p.Cys19=) rs759365577
NM_001122630.2(CDKN1C):c.582C>T (p.Ala194=) rs1368082798
NM_001122630.2(CDKN1C):c.585G>A (p.Pro195=) rs1060503858
NM_001122630.2(CDKN1C):c.587_616del (p.186_187AP[5]) rs878853638
NM_001122630.2(CDKN1C):c.587_616dup (p.186_187AP[15]) rs878853638
NM_001122630.2(CDKN1C):c.588C>T (p.Ala196=) rs1590149525
NM_001122630.2(CDKN1C):c.593_616dup (p.186_187AP[14]) rs778468310
NM_001122630.2(CDKN1C):c.597C>G (p.Pro199=) rs767656648
NM_001122630.2(CDKN1C):c.597_602del (p.186_187AP[9]) rs786205238
NM_001122630.2(CDKN1C):c.597_602dup (p.186_187AP[11]) rs786205238
NM_001122630.2(CDKN1C):c.597_608del (p.186_187AP[8]) rs1380480846
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.599_600insACCGGC (p.186_187AP[11]) rs771450542
NM_001122630.2(CDKN1C):c.637G>A (p.Ala213Thr) rs528634940
NM_001122630.2(CDKN1C):c.643C>G (p.Gln215Glu) rs483352987
NM_001122630.2(CDKN1C):c.651G>T (p.Ala217=) rs761539484
NM_001122630.2(CDKN1C):c.660G>A (p.Gly220=) rs1554937788
NM_001122630.2(CDKN1C):c.669C>G (p.Gly223=) rs546016935
NM_001122630.2(CDKN1C):c.66C>T (p.Leu22=) rs960994716
NM_001122630.2(CDKN1C):c.699G>C (p.Ser233=) rs751650132
NM_001122630.2(CDKN1C):c.744C>T (p.Ala248=) rs1590148914
NM_001122630.2(CDKN1C):c.753G>T (p.Ala251=) rs775458829
NM_001122630.2(CDKN1C):c.756G>C (p.Ala252=) rs1269967508
NM_001122630.2(CDKN1C):c.765G>A (p.Lys255=) rs1590148866
NM_001122630.2(CDKN1C):c.771C>T (p.Ser257=) rs747104008
NM_001122630.2(CDKN1C):c.777T>G (p.Pro259=) rs1395099180
NM_001122630.2(CDKN1C):c.788-8G>T rs762520730
NM_001122630.2(CDKN1C):c.816G>A (p.Ala272=) rs1554937506
NM_001122630.2(CDKN1C):c.828G>A (p.Ser276=) rs373252940
NM_001122630.2(CDKN1C):c.828G>C (p.Ser276=) rs373252940
NM_001122630.2(CDKN1C):c.831G>A (p.Ser277=) rs370564696
NM_001122630.2(CDKN1C):c.843C>G (p.Pro281=) rs773166985
NM_001122630.2(CDKN1C):c.855C>G (p.Pro285=) rs779172459
NM_001122630.2(CDKN1C):c.855C>T (p.Pro285=) rs779172459
NM_001122630.2(CDKN1C):c.864C>T (p.Ser288=) rs1554937479
NM_001122630.2(CDKN1C):c.873T>C (p.Pro291=) rs780417247
NM_001122630.2(CDKN1C):c.873T>G (p.Pro291=) rs780417247
NM_001122630.2(CDKN1C):c.885G>C (p.Ser295=) rs1060503861
NM_001122630.2(CDKN1C):c.888G>T (p.Val296=) rs763529383
NM_001122630.2(CDKN1C):c.900G>A (p.Pro300=) rs1364915876
NM_001122630.2(CDKN1C):c.90G>A (p.Glu30=) rs1468271941
NM_001122630.2(CDKN1C):c.917G>A (p.Ter306=) rs1363802623
NM_001362475.2(CDKN1C):c.255+200CTCCGGTCGCGG[4] rs565544512
NM_001362475.2(CDKN1C):c.255+200CTCCGGTCGCGG[5] rs565544512
NM_001362475.2(CDKN1C):c.255+267TCCGGC[4] rs878853632
NM_001362475.2(CDKN1C):c.255+318GGCCCC[8] rs759134767
NM_001362475.2(CDKN1C):c.255+344CCCCGG[4] rs772704243

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