List of variants in gene NF1 reported by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.2544G>A (p.Gly848=)	rs17883704	0.02390
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=)	rs10512435	0.02109
NM_001042492.3(NF1):c.7971-19G>T	rs17887156	0.01813
NM_001042492.3(NF1):c.4929G>A (p.Val1643=)	rs17880521	0.01527
NM_001042492.3(NF1):c.2851-16T>C	rs17880825	0.01502
NM_001042492.3(NF1):c.8113+20G>A	rs55747230	0.01406
NM_001042492.3(NF1):c.168C>T (p.Ser56=)	rs17881168	0.01374
NM_001042492.3(NF1):c.7755C>T (p.Ser2585=)	rs17881980	0.00994
NM_001042492.3(NF1):c.2022C>T (p.Ser674=)	rs2230851	0.00908
NM_001042492.3(NF1):c.7322-17C>T	rs17884859	0.00744
NM_001042492.3(NF1):c.6393C>T (p.His2131=)	rs17881788	0.00655
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=)	rs2066733	0.00392
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)	rs112306990	0.00380
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)	rs17887014	0.00305
NM_001042492.3(NF1):c.846G>A (p.Gln282=)	rs138840528	0.00237
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)	rs55865524	0.00125
NM_001042492.3(NF1):c.4577+11C>G	rs190614908	0.00123
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser)	rs199966218	0.00015
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	rs137854550	0.00002
NM_001042492.3(NF1):c.7623G>A (p.Arg2541=)	rs876660737	0.00001
NM_001042492.3(NF1):c.3198-3_3199del	rs771679821
NM_001042492.3(NF1):c.4174-8_4174-6del	rs751729752
NM_001042492.3(NF1):c.4536G>A (p.Trp1512Ter)	rs878853897
NM_001042492.3(NF1):c.61-4del	rs551568608
NM_001042492.3(NF1):c.6147+8C>G	rs182709912
NM_001042492.3(NF1):c.730+32del	rs71142032
NM_001042492.3(NF1):c.730+32dup	rs71142032
NM_001042492.3(NF1):c.7971-8del	rs564545012

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