List of variants studied for Beckwith-Wiedemann syndrome by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NG_008935.1:g.(21725_81488)_(328930_337985)del
NG_016165.1:g.(170_?)_(?_2014)del
NM_001122630.2(CDKN1C):c.106C>T (p.Gln36Ter)	rs137852766
NM_001122630.2(CDKN1C):c.277_278delinsG (p.Leu93fs)	rs387906399
NM_001122630.2(CDKN1C):c.707C>A (p.Ser236Ter)	rs104894200
NM_001122630.2(CDKN1C):c.793delinsAG (p.Phe265fs)	rs2133780364
NM_001122630.2(CDKN1C):c.812C>A (p.Ser271Ter)	rs267606716
NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter)	rs267606716
NR_002196.1(H19):n.-7080_-1781del

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