ClinVar Miner

List of variants in gene CDKN1C reported as pathogenic for cardiomyopathy

Included ClinVar conditions (519):
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Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_001122630.2(CDKN1C):c.546del (p.Pro183fs) rs1848940003 0.00001
NC_000011.10:g.(?_2883979)_(2885755_?)del
NC_000011.9:g.(?_2905228)_(2906725_?)del
NM_001122630.2(CDKN1C):c.*5+2T>C rs587777866
NM_001122630.2(CDKN1C):c.100G>T (p.Glu34Ter)
NM_001122630.2(CDKN1C):c.106C>T (p.Gln36Ter) rs137852766
NM_001122630.2(CDKN1C):c.132del (p.Glu45fs) rs2133786067
NM_001122630.2(CDKN1C):c.133G>T (p.Glu45Ter) rs1848974871
NM_001122630.2(CDKN1C):c.156_157insTTCCAGCTGG (p.Asp53fs) rs1554938197
NM_001122630.2(CDKN1C):c.161_164del (p.Phe54fs)
NM_001122630.2(CDKN1C):c.163C>T (p.Gln55Ter)
NM_001122630.2(CDKN1C):c.163del (p.Gln55fs) rs1554938194
NM_001122630.2(CDKN1C):c.174dup (p.Pro59fs) rs2133785873
NM_001122630.2(CDKN1C):c.176C>T (p.Pro59Leu) rs483352970
NM_001122630.2(CDKN1C):c.185dup (p.Gly64fs)
NM_001122630.2(CDKN1C):c.193_200dup (p.Gln67fs) rs2133785723
NM_001122630.2(CDKN1C):c.199C>T (p.Gln67Ter) rs2133785734
NM_001122630.2(CDKN1C):c.203G>A (p.Trp68Ter) rs1379762772
NM_001122630.2(CDKN1C):c.204G>A (p.Trp68Ter) rs2133785693
NM_001122630.2(CDKN1C):c.205del (p.Thr69fs) rs2133785682
NM_001122630.2(CDKN1C):c.224C>A (p.Ser75Ter)
NM_001122630.2(CDKN1C):c.244G>T (p.Glu82Ter) rs2133785530
NM_001122630.2(CDKN1C):c.261dup (p.Arg88fs)
NM_001122630.2(CDKN1C):c.277_278delinsG (p.Leu93fs) rs387906399
NM_001122630.2(CDKN1C):c.278_279insAGCA (p.Pro95fs) rs1848966851
NM_001122630.2(CDKN1C):c.283_300delinsG (p.Pro95fs) rs1848965153
NM_001122630.2(CDKN1C):c.296del (p.Ala99fs)
NM_001122630.2(CDKN1C):c.300dup (p.Ala101fs) rs786205235
NM_001122630.2(CDKN1C):c.325G>T (p.Glu109Ter) rs1220263188
NM_001122630.2(CDKN1C):c.347del (p.Asp116fs)
NM_001122630.2(CDKN1C):c.351_358del (p.Leu118fs) rs1554938087
NM_001122630.2(CDKN1C):c.354del (p.Glu119fs) rs1590150660
NM_001122630.2(CDKN1C):c.355G>T (p.Glu119Ter) rs1564930265
NM_001122630.2(CDKN1C):c.35_50del (p.Val12fs)
NM_001122630.2(CDKN1C):c.367dup (p.Glu123fs) rs786205236
NM_001122630.2(CDKN1C):c.388del (p.Val130fs)
NM_001122630.2(CDKN1C):c.399_415del (p.Ala134fs) rs2133784715
NM_001122630.2(CDKN1C):c.410del (p.Pro137fs) rs2133784748
NM_001122630.2(CDKN1C):c.416del (p.Pro139fs) rs786205234
NM_001122630.2(CDKN1C):c.416dup (p.Val140fs)
NM_001122630.2(CDKN1C):c.417_420del (p.Val140fs) rs1848953740
NM_001122630.2(CDKN1C):c.41_44del (p.Val14fs)
NM_001122630.2(CDKN1C):c.421_422insA (p.Pro141fs) rs2133784672
NM_001122630.2(CDKN1C):c.512del (p.Pro171fs)
NM_001122630.2(CDKN1C):c.542del (p.Pro181fs)
NM_001122630.2(CDKN1C):c.55dup (p.Cys19fs)
NM_001122630.2(CDKN1C):c.572dup (p.Ala192fs)
NM_001122630.2(CDKN1C):c.574_598dup (p.Ala200fs) rs1848931980
NM_001122630.2(CDKN1C):c.578_602dup (p.Ala202fs) rs1554937847
NM_001122630.2(CDKN1C):c.578del (p.Pro193fs) rs2133783249
NM_001122630.2(CDKN1C):c.57C>A (p.Cys19Ter) rs759365577
NM_001122630.2(CDKN1C):c.596_597insGCTCCGGCCCC (p.Ala200fs) rs786205241
NM_001122630.2(CDKN1C):c.598delinsAA (p.Ala200fs) rs786205239
NM_001122630.2(CDKN1C):c.599CCCCGG[4] (p.186AP[11]) rs772704243
NM_001122630.2(CDKN1C):c.599_609del (p.Ala200fs) rs1848930692
NM_001122630.2(CDKN1C):c.602del (p.Pro201fs) rs786205237
NM_001122630.2(CDKN1C):c.604del (p.Ala202fs)
NM_001122630.2(CDKN1C):c.608_611delinsGGG (p.Pro203fs) rs786205240
NM_001122630.2(CDKN1C):c.60_61del (p.Ser21fs) rs2133786397
NM_001122630.2(CDKN1C):c.614del (p.Pro205fs) rs1564929584
NM_001122630.2(CDKN1C):c.630del (p.Glu211fs)
NM_001122630.2(CDKN1C):c.637_652delinsCCC (p.Ala213fs) rs1848926281
NM_001122630.2(CDKN1C):c.640G>T (p.Glu214Ter) rs1564929520
NM_001122630.2(CDKN1C):c.655C>T (p.Gln219Ter) rs483352988
NM_001122630.2(CDKN1C):c.661C>T (p.Gln221Ter) rs797045445
NM_001122630.2(CDKN1C):c.661del (p.Gln221fs)
NM_001122630.2(CDKN1C):c.662del (p.Gln221fs)
NM_001122630.2(CDKN1C):c.673G>T (p.Glu225Ter) rs1564929426
NM_001122630.2(CDKN1C):c.67_68insGAG (p.Phe23Ter) rs1848979151
NM_001122630.2(CDKN1C):c.688C>T (p.Gln230Ter) rs483352991
NM_001122630.2(CDKN1C):c.698C>A (p.Ser233Ter) rs483352993
NM_001122630.2(CDKN1C):c.707C>A (p.Ser236Ter) rs104894200
NM_001122630.2(CDKN1C):c.719_730delinsGTGC (p.Ala240fs) rs1554937726
NM_001122630.2(CDKN1C):c.724_727dup (p.Thr243fs)
NM_001122630.2(CDKN1C):c.730del (p.Ala244fs)
NM_001122630.2(CDKN1C):c.745_757del (p.Asn249fs) rs2133782023
NM_001122630.2(CDKN1C):c.748_749del (p.Gly250fs) rs2133782104
NM_001122630.2(CDKN1C):c.74_75del (p.Pro25fs) rs1848978708
NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn) rs387907225
NM_001122630.2(CDKN1C):c.789_793delinsGAGCTG (p.Asp263fs) rs2133780371
NM_001122630.2(CDKN1C):c.790_791insC (p.Phe264fs)
NM_001122630.2(CDKN1C):c.793delinsAG (p.Phe265fs) rs2133780364
NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu) rs318240750
NM_001122630.2(CDKN1C):c.809_810del (p.Arg270fs) rs2133780268
NM_001122630.2(CDKN1C):c.812C>A (p.Ser271Ter) rs267606716
NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter) rs267606716
NM_001122630.2(CDKN1C):c.812del (p.Arg270_Ser271insTer)
NM_001122630.2(CDKN1C):c.820G>T (p.Glu274Ter)
NM_001122630.2(CDKN1C):c.832_835delinsCTGCGCCTGA (p.Gly278_Asp279delinsLeuArgLeuAsn)
NM_001122630.2(CDKN1C):c.837del (p.Asp279fs)
NM_001122630.2(CDKN1C):c.85G>T (p.Glu29Ter) rs1564930723
NM_001122630.2(CDKN1C):c.92T>C (p.Leu31Pro) rs1848977725
NM_001122630.2(CDKN1C):c.95_96insA (p.Ser32fs) rs2133786225

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