List of variants in gene NF1 reported as likely pathogenic by Fulgent Genetics, Fulgent Genetics

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)	rs137854563
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)	rs199474746
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)	rs199474786
NM_001042492.3(NF1):c.3198-2A>G	rs1131691089
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile)	rs1064794277
NM_001042492.3(NF1):c.4070del (p.Phe1357fs)	rs1555617354
NM_001042492.3(NF1):c.4406_4418del (p.Lys1469fs)	rs1567862349
NM_001042492.3(NF1):c.4725-1G>A	rs1555619391
NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer)	rs2151470108
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter)	rs2069329774
NM_001042492.3(NF1):c.6819+3del	rs2069728377
NM_001042492.3(NF1):c.7971-321C>G	rs2070316606

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