ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000076.2(CDKN1C):c.752_763delinsGTGC (p.Ala251fs) rs1554937726
NM_022455.4(NSD1):c.2350C>T (p.Gln784Ter) rs374740802
NM_022455.4(NSD1):c.4379-2A>G
NM_022455.4(NSD1):c.5149G>C (p.Gly1717Arg) rs1562278357
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) rs1562292890
NM_022455.4(NSD1):c.5892+1G>A rs886039579
NM_022455.4(NSD1):c.6014G>A (p.Arg2005Gln) rs587784174
NM_022455.4(NSD1):c.6089A>C (p.Gln2030Pro) rs1554204952
NM_022455.4(NSD1):c.6356A>G (p.Asp2119Gly) rs587784191
NM_022455.4(NSD1):c.6424T>G (p.Tyr2142Asp) rs1562305920
NM_022455.4(NSD1):c.7180A>G (p.Ile2394Val) rs1554207690
NM_181798.1(KCNQ1):c.1366C>T (p.Arg456Cys) rs17221854

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