ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP
CDKN1C, 1-BP DEL/2-BP INS, 1086T-AG
NC_000011.9:g.(?_2905209)_(2906985_?)del
NM_000076.2(CDKN1C):c.139C>T (p.Gln47Ter) rs137852766
NM_000076.2(CDKN1C):c.189_190insTTCCAGCTGG (p.Asp64fs) rs1554938197
NM_000076.2(CDKN1C):c.196del (p.Gln66fs) rs1554938194
NM_000076.2(CDKN1C):c.310_311delinsG (p.Leu104fs) rs387906399
NM_000076.2(CDKN1C):c.333dup (p.Ala112fs) rs786205235
NM_000076.2(CDKN1C):c.384_391del (p.Leu129fs) rs1554938087
NM_000076.2(CDKN1C):c.387del (p.Glu130fs)
NM_000076.2(CDKN1C):c.400dup (p.Glu134fs) rs786205236
NM_000076.2(CDKN1C):c.449del (p.Pro150fs) rs786205234
NM_000076.2(CDKN1C):c.5+2T>C rs587777866
NM_000076.2(CDKN1C):c.611_635dup (p.Ala213fs) rs1554937847
NM_000076.2(CDKN1C):c.629_630insGCTCCGGCCCC (p.Ala211fs) rs786205241
NM_000076.2(CDKN1C):c.631delinsAA (p.Ala211fs) rs786205239
NM_000076.2(CDKN1C):c.632_637CCCCGG[4] (p.197_198AP[11]) rs772704243
NM_000076.2(CDKN1C):c.635del (p.Pro212fs) rs786205237
NM_000076.2(CDKN1C):c.641_644delinsGGG (p.Pro214fs) rs786205240
NM_000076.2(CDKN1C):c.647del (p.Pro216fs) rs1564929584
NM_000076.2(CDKN1C):c.673G>T (p.Glu225Ter) rs1564929520
NM_000076.2(CDKN1C):c.694C>T (p.Gln232Ter) rs797045445
NM_000076.2(CDKN1C):c.706G>T (p.Glu236Ter) rs1564929426
NM_000076.2(CDKN1C):c.740C>A (p.Ser247Ter) rs104894200
NM_000076.2(CDKN1C):c.845C>A (p.Ser282Ter) rs267606716
NM_000076.2(CDKN1C):c.845C>G (p.Ser282Ter) rs267606716

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