List of variants in gene NF1 reported as likely pathogenic by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.1062+2T>C	rs2066510391
NM_001042492.3(NF1):c.1317del (p.Arg440fs)
NM_001042492.3(NF1):c.1397_1398dup (p.Thr467fs)
NM_001042492.3(NF1):c.1846del (p.Gln616fs)
NM_001042492.3(NF1):c.2410-12T>G	rs876657932
NM_001042492.3(NF1):c.3291del (p.Ala1098fs)
NM_001042492.3(NF1):c.3739T>A (p.Phe1247Ile)
NM_001042492.3(NF1):c.4066_4067del (p.Glu1356fs)
NM_001042492.3(NF1):c.5347del (p.Tyr1783fs)	rs1567612415
NM_001042492.3(NF1):c.6374T>C (p.Leu2125Pro)	rs1597843129

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