List of variants in gene NSD1 reported as pathogenic for Inborn genetic diseases

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_022455.5(NSD1):c.1702_1703insAG (p.Phe568Ter)	rs1554189042
NM_022455.5(NSD1):c.2209dup (p.Thr737fs)	rs1763260541
NM_022455.5(NSD1):c.2555_2556del (p.Ile852fs)	rs1763290288
NM_022455.5(NSD1):c.2575_2576del (p.His859fs)
NM_022455.5(NSD1):c.2672_2676del (p.Ser891fs)	rs1131691754
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs)	rs587784092
NM_022455.5(NSD1):c.3451_3452del (p.Val1151fs)	rs1554190262
NM_022455.5(NSD1):c.3788del (p.Pro1263fs)	rs1763397665
NM_022455.5(NSD1):c.3891del (p.Lys1297fs)	rs1765403726
NM_022455.5(NSD1):c.4192+2T>G	rs587784111
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter)	rs587784117
NM_022455.5(NSD1):c.4651A>T (p.Lys1551Ter)
NM_022455.5(NSD1):c.4949_4950del (p.Asn1650fs)	rs1554199501
NM_022455.5(NSD1):c.5127G>A (p.Trp1709Ter)	rs2149918110
NM_022455.5(NSD1):c.5257A>T (p.Lys1753Ter)
NM_022455.5(NSD1):c.5622+1G>A
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys)	rs797045825
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter)	rs587784190

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