ClinVar Miner

List of variants in gene NSD1 reported as likely pathogenic for Beckwith-Wiedemann syndrome

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Total variants: 23
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HGVS dbSNP
NM_022455.4(NSD1):c.4379-2A>G rs1581429903
NM_022455.4(NSD1):c.5146+1G>A rs587784139
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.5410T>A (p.Tyr1804Asn) rs1581497686
NM_022455.4(NSD1):c.5714G>C (p.Cys1905Ser) rs1554204110
NM_022455.4(NSD1):c.5736C>G (p.Ile1912Met) rs1562292890
NM_022455.4(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
NM_022455.4(NSD1):c.5892+1G>A rs886039579
NM_022455.4(NSD1):c.5927T>C (p.Ile1976Thr) rs587784167
NM_022455.4(NSD1):c.6014G>A (p.Arg2005Gln) rs587784174
NM_022455.4(NSD1):c.6086C>T (p.Thr2029Ile) rs587784181
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.6366T>G (p.Phe2122Leu) rs1562305653
NM_022455.4(NSD1):c.6424T>G (p.Tyr2142Asp) rs1562305920
NM_022455.4(NSD1):c.7180A>G (p.Ile2394Val) rs1554207690
NM_022455.5(NSD1):c.4766-1G>A
NM_022455.5(NSD1):c.5198G>T (p.Cys1733Phe)
NM_022455.5(NSD1):c.5685C>G (p.Cys1895Trp)
NM_022455.5(NSD1):c.6208T>G (p.Cys2070Gly)
NM_022455.5(NSD1):c.6490T>C (p.Cys2164Arg)

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