List of variants in gene NF1 reported as pathogenic by Suma Genomics

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.1466A>G (p.Tyr489Cys)	rs137854557	0.00001
NM_001042492.3(NF1):c.1139T>C (p.Leu380Pro)	rs1555611004
NM_001042492.3(NF1):c.1527+1G>A	rs1060500331
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)	rs199474747
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)	rs199474742
NM_001042492.3(NF1):c.4331A>C (p.Lys1444Thr)	rs199474781
NM_001042492.3(NF1):c.5269-1G>A	rs876660141
NM_001042492.3(NF1):c.6402del (p.Leu2133_Cys2134insTer)	rs2508750072
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)	rs876658541
NM_001042492.3(NF1):c.705C>G (p.Tyr235Ter)	rs769048538
NM_001042492.3(NF1):c.7322-2A>G	rs2151574219

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