List of variants in gene NSD1 reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_022455.5(NSD1):c.2349del (p.Lys783fs)	rs398124374
NM_022455.5(NSD1):c.2915del (p.Thr972fs)	rs1554189879
NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter)	rs587784098
NM_022455.5(NSD1):c.3382dup (p.Ser1128fs)	rs886043780
NM_022455.5(NSD1):c.4058_4061del (p.Glu1353fs)	rs1554195857
NM_022455.5(NSD1):c.4217_4220del (p.Arg1406fs)	rs794727930
NM_022455.5(NSD1):c.5279_5282del (p.Val1760fs)	rs398124379
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp)	rs587784176
NM_022455.5(NSD1):c.6152-1G>A	rs886044326
NM_022455.5(NSD1):c.6440dup (p.Asn2148fs)	rs886042725
NM_022455.5(NSD1):c.6463+1G>A	rs398124381
NM_022455.5(NSD1):c.6538_6539insC (p.Ser2180fs)	rs398124383

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