List of variants in gene NSD1 reported by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_022455.5(NSD1):c.5740C>T (p.Arg1914Cys)	rs587784154	0.00001
NM_022455.5(NSD1):c.2137dup (p.Met713fs)	rs1581318949
NM_022455.5(NSD1):c.26G>T (p.Arg9Ile)
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter)	rs886041218
NM_022455.5(NSD1):c.5824_5828del (p.Pro1942fs)	rs2127257484
NM_022455.5(NSD1):c.5858G>T (p.Gly1953Val)
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter)	rs587784173
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	rs587784177
NM_022455.5(NSD1):c.6358G>T (p.Glu2120Ter)	rs1581558015
NM_022455.5(NSD1):c.6542C>T (p.Ser2181Phe)	rs2127279367
NM_022455.5(NSD1):c.6871_6873delinsTAT (p.Gln2291Tyr)	rs2127280285
NM_022455.5(NSD1):c.7988G>A (p.Trp2663Ter)

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