ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001122630.2(CDKN1C):c.100G>A (p.Glu34Lys) rs1848977184
NM_001122630.2(CDKN1C):c.289_304del (p.Pro97fs)
NM_001122630.2(CDKN1C):c.334_352del (p.Ala112fs) rs1848960369
NM_001122630.2(CDKN1C):c.476_477del (p.Ala159fs)
NM_001122630.2(CDKN1C):c.771_786del (p.Gly258fs) rs1848915004
NM_001122630.2(CDKN1C):c.786del (p.Asp263fs) rs1848914894
NM_001122630.2(CDKN1C):c.802del (p.Arg268fs)
NM_001122630.2(CDKN1C):c.872del (p.Pro291fs) rs483352997

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