List of variants in gene NF1 reported as 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: 22

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)	rs778405030	0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)	rs797045139	0.00001
NM_001042492.3(NF1):c.1527+4_1527+7del	rs1555612294
NM_001042492.3(NF1):c.1658A>G (p.His553Arg)	rs1064794274
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)	rs786202782
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)	rs199474738
NM_001042492.3(NF1):c.2850+1G>T	rs1131691122
NM_001042492.3(NF1):c.2953C>T (p.Gln985Ter)	rs1555614455
NM_001042492.3(NF1):c.3198-2A>G	rs1131691089
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)	rs199474742
NM_001042492.3(NF1):c.4431-1G>C	rs1597746891
NM_001042492.3(NF1):c.4558C>T (p.Gln1520Ter)	rs1060500242
NM_001042492.3(NF1):c.4973_4974del (p.Phe1658fs)	rs2069329470
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)	rs137854552
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)	rs876658541
NM_001042492.3(NF1):c.6818A>G (p.Lys2273Arg)	rs1060500344
NM_001042492.3(NF1):c.6819+1G>A	rs1555534964
NM_001042492.3(NF1):c.706C>T (p.Gln236Ter)	rs1597658664
NM_001042492.3(NF1):c.7325T>G (p.Leu2442Ter)	rs2151574236
NM_001042492.3(NF1):c.7701dup (p.Lys2568fs)	rs1060500295
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)	rs786201367
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)	rs786203950

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