ClinVar Miner

List of variants reported as pathogenic for Beckwith-Wiedemann syndrome by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
CDKN1C, 1-BP DEL/2-BP INS, 1086T-AG
H19, 1.8-KB DEL
H19, 5.3-KB DEL
KCNQ1OT1, DEL
NG_016165.1:g.(170_?)_(?_2014)del
NM_000076.2(CDKN1C):c.139C>T (p.Gln47Ter) rs137852766
NM_000076.2(CDKN1C):c.310_311delCTinsG (p.Leu104Glyfs) rs387906399
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
NR_002196.1(H19):n.-7080_-1781del

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