List of variants in gene NF1 reported as likely pathogenic by NHS Central & South Genomic Laboratory Hub

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: 24

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.1062+3A>T	rs1057521098
NM_001042492.3(NF1):c.1185G>A (p.Lys395=)	rs1567835847
NM_001042492.3(NF1):c.1260+1G>T	rs267606603
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg)	rs1555612288
NM_001042492.3(NF1):c.1641+1G>A	rs1555612866
NM_001042492.3(NF1):c.173T>C (p.Leu58Pro)	rs1597626094
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg)	rs876658853
NM_001042492.3(NF1):c.277T>C (p.Cys93Arg)	rs1555605398
NM_001042492.3(NF1):c.3197+1G>A	rs1555614653
NM_001042492.3(NF1):c.3437T>G (p.Val1146Gly)	rs2067137147
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile)	rs371544233
NM_001042492.3(NF1):c.3502G>C (p.Gly1168Arg)	rs878853883
NM_001042492.3(NF1):c.3548T>A (p.Leu1183Gln)	rs1555615028
NM_001042492.3(NF1):c.3578T>A (p.Phe1193Tyr)	rs199474780
NM_001042492.3(NF1):c.3590C>T (p.Ala1197Val)	rs370820478
NM_001042492.3(NF1):c.4016T>G (p.Leu1339Arg)	rs1567858306
NM_001042492.3(NF1):c.4381A>G (p.Met1461Val)	rs1555618675
NM_001042492.3(NF1):c.4886T>C (p.Leu1629Pro)	rs1555533288
NM_001042492.3(NF1):c.5609+5G>C	rs1597832498
NM_001042492.3(NF1):c.5933T>G (p.Leu1978Arg)	rs2069606635
NM_001042492.3(NF1):c.6006G>T (p.Gln2002His)	rs1555534432
NM_001042492.3(NF1):c.6374T>G (p.Leu2125Arg)	rs1597843129
NM_001042492.3(NF1):c.7970+6T>C	rs1555536775
NM_001042492.3(NF1):c.809A>C (p.Gln270Pro)	rs1597659939

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