ClinVar Miner

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

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Total variants: 38
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HGVS dbSNP
CDKN1C, 1-BP DEL/2-BP INS, 1086T-AG
NC_000011.10:g.(?_2883979)_(2885755_?)del
NM_001122630.2(CDKN1C):c.*5+2T>C rs587777866
NM_001122630.2(CDKN1C):c.106C>T (p.Gln36Ter) rs137852766
NM_001122630.2(CDKN1C):c.156_157insTTCCAGCTGG (p.Asp53fs) rs1554938197
NM_001122630.2(CDKN1C):c.163del (p.Gln55fs) rs1554938194
NM_001122630.2(CDKN1C):c.277_278delinsG (p.Leu93fs) rs387906399
NM_001122630.2(CDKN1C):c.278_279insAGCA (p.Pro95fs)
NM_001122630.2(CDKN1C):c.283_300delinsG (p.Pro95fs)
NM_001122630.2(CDKN1C):c.300dup (p.Ala101fs) rs786205235
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)
NM_001122630.2(CDKN1C):c.367dup (p.Glu123fs) rs786205236
NM_001122630.2(CDKN1C):c.417_420del (p.Val140fs)
NM_001122630.2(CDKN1C):c.546del (p.Pro183fs)
NM_001122630.2(CDKN1C):c.574_598dup (p.Ala200fs)
NM_001122630.2(CDKN1C):c.578_602dup (p.Ala202fs) rs1554937847
NM_001122630.2(CDKN1C):c.596_597insGCTCCGGCCCC (p.Ala200fs) rs786205241
NM_001122630.2(CDKN1C):c.598delinsAA (p.Ala200fs) rs786205239
NM_001122630.2(CDKN1C):c.599_609del (p.Ala200fs)
NM_001122630.2(CDKN1C):c.602del (p.Pro201fs) rs786205237
NM_001122630.2(CDKN1C):c.608_611delinsGGG (p.Pro203fs) rs786205240
NM_001122630.2(CDKN1C):c.614del (p.Pro205fs) rs1564929584
NM_001122630.2(CDKN1C):c.637_652delinsCCC (p.Ala213fs)
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.673G>T (p.Glu225Ter) rs1564929426
NM_001122630.2(CDKN1C):c.67_68insGAG (p.Phe23Ter)
NM_001122630.2(CDKN1C):c.707C>A (p.Ser236Ter) rs104894200
NM_001122630.2(CDKN1C):c.74_75del (p.Pro25fs)
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.85G>T (p.Glu29Ter)
NM_001122630.2(CDKN1C):c.92T>C (p.Leu31Pro)
NM_001362475.2(CDKN1C):c.255+161del rs786205234
NM_001362475.2(CDKN1C):c.255+344CCCCGG[4] rs772704243

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