ClinVar Miner

List of variants reported as pathogenic for Beckwith-Wiedemann syndrome by Centre de Recherche Saint Antoine, Université Pierre et Marie Curie

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000076.2(CDKN1C):c.333dup (p.Ala112fs) rs786205235
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

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