List of variants in gene NF1 reported as not provided for Neurofibromatosis, type 1

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile)	rs145191978	0.00005
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)	rs137854556	0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)	rs797045139	0.00001
NM_001042492.3(NF1):c.1801_1803del (p.Arg601del)	rs1555613421
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)	rs267606606
NM_001042492.3(NF1):c.3238C>G (p.Leu1080Val)	rs1555614832
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu)	rs1567863004
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp)	rs1060500316
NM_001042492.3(NF1):c.5488C>A (p.Arg1830Ser)	rs797045139
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly)	rs797045139
NM_001042492.3(NF1):c.5489G>C (p.Arg1830Pro)	rs771529172
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)	rs771529172
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)	rs866445127

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