List of variants in gene NSD1 reported as pathogenic by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_022455.5(NSD1):c.1064-2A>G	rs2149836062
NM_022455.5(NSD1):c.2948dup (p.Gly983_Asp984insTer)	rs2149846650
NM_022455.5(NSD1):c.4378+3_4378+6del	rs1562251194
NM_022455.5(NSD1):c.4771C>T (p.His1591Tyr)	rs1554199368
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg)	rs1756522180
NM_022455.5(NSD1):c.4919G>A (p.Cys1640Tyr)
NM_022455.5(NSD1):c.5738A>G (p.Asn1913Ser)	rs2127257170
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	rs587784177
NM_022455.5(NSD1):c.7405del (p.Ala2469fs)	rs2127282737

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