ClinVar Miner

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

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Total variants: 8
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NM_000076.2(CDKN1C):c.752_763delCGGCCGGCACCGinsGTGC (p.Ala251Glyfs) rs1554937726
NM_022455.4(NSD1):c.5276T>C (p.Ile1759Thr) rs1060501498
NM_022455.4(NSD1):c.5303+1G>C rs587784141
NM_022455.4(NSD1):c.5736C>G (p.Ile1912Met)
NM_022455.4(NSD1):c.5892+1G>A rs886039579
NM_022455.4(NSD1):c.6089A>C (p.Gln2030Pro) rs1554204952
NM_022455.4(NSD1):c.6424T>G (p.Tyr2142Asp)
NM_022455.4(NSD1):c.7180A>G (p.Ile2394Val) rs1554207690

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