List of variants in gene NF1 reported by GenomeConnect - Invitae Patient Insights Network

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His)	rs546073780	0.00006
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)	rs146641724	0.00003
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln)	rs1350468182	0.00001
NM_001042492.3(NF1):c.1185+2T>G	rs1555611043
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)	rs199474738
NM_001042492.3(NF1):c.2131C>T (p.Arg711Cys)	rs1400902839
NM_001042492.3(NF1):c.2989A>G (p.Arg997Gly)	rs2067085335
NM_001042492.3(NF1):c.3238C>G (p.Leu1080Val)	rs1555614832
NM_001042492.3(NF1):c.3544G>T (p.Val1182Phe)	rs1555615027
NM_001042492.3(NF1):c.4394A>G (p.Asn1465Ser)	rs786202492
NM_001042492.3(NF1):c.5327C>G (p.Ser1776Ter)	rs2069376973
NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu)	rs2070328290
NM_001042492.3(NF1):c.872A>C (p.Glu291Ala)	rs876660171

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.