List of variants in gene NF1 reported as likely pathogenic by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.196_204+1del	rs2544681845
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)	rs199474786
NM_001042492.3(NF1):c.2774del (p.Glu924_Leu925insTer)	rs2508188482
NM_001042492.3(NF1):c.3104T>G (p.Met1035Arg)	rs137854553
NM_001042492.3(NF1):c.3623T>G (p.Leu1208Trp)	rs1060500374
NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys)	rs1060500243
NM_001042492.3(NF1):c.391del (p.Ala131fs)	rs2544701027
NM_001042492.3(NF1):c.4554dup (p.Gly1519fs)
NM_001042492.3(NF1):c.6643-1G>A
NM_001042492.3(NF1):c.6893T>C (p.Leu2298Pro)	rs1597846070
NM_001042492.3(NF1):c.7739-5_7740dup

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