List of variants in gene NF1 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 42

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)	rs201047812	0.00015
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)	rs377662483	0.00011
NM_001042492.3(NF1):c.4836-3T>C	rs372460369	0.00007
NM_001042492.3(NF1):c.6664A>G (p.Thr2222Ala)	rs745945481	0.00004
NM_001042492.3(NF1):c.134A>G (p.Asn45Ser)	rs753189381	0.00003
NM_001042492.3(NF1):c.5257G>A (p.Val1753Ile)	rs148540952	0.00003
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)	rs587781755	0.00002
NM_001042492.3(NF1):c.2659G>A (p.Ala887Thr)	rs1251621684	0.00001
NM_001042492.3(NF1):c.2794A>G (p.Met932Val)	rs886052800	0.00001
NM_001042492.3(NF1):c.403C>T (p.Arg135Trp)	rs775191883	0.00001
NM_001042492.3(NF1):c.475A>G (p.Thr159Ala)	rs371192107	0.00001
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met)	rs185660700	0.00001
NM_001042492.3(NF1):c.587-3C>T	rs375188075	0.00001
NM_001042492.3(NF1):c.7135G>A (p.Gly2379Arg)	rs775476318	0.00001
NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg)	rs1555611004
NM_001042492.3(NF1):c.1316T>C (p.Leu439Pro)	rs2143914353
NM_001042492.3(NF1):c.1633G>C (p.Ala545Pro)	rs1567843945
NM_001042492.3(NF1):c.2014G>A (p.Gly672Arg)	rs786202632
NM_001042492.3(NF1):c.2113_2121dup (p.Met707_Ser708insValAlaMet)	rs2508156334
NM_001042492.3(NF1):c.2992T>A (p.Tyr998Asn)	rs2151431469
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu)	rs1555614619
NM_001042492.3(NF1):c.3180T>G (p.Asp1060Glu)	rs1555614646
NM_001042492.3(NF1):c.3254T>G (p.Leu1085Arg)	rs1555614849
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser)	rs199474764
NM_001042492.3(NF1):c.3644T>A (p.Met1215Lys)	rs1555615071
NM_001042492.3(NF1):c.3668T>G (p.Ile1223Arg)	rs1555615091
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His)	rs1555618518
NM_001042492.3(NF1):c.454G>A (p.Ala152Thr)	rs2065795636
NM_001042492.3(NF1):c.4819TAT[1] (p.Tyr1608del)	rs2508445730
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)	rs1567820765
NM_001042492.3(NF1):c.5755G>A (p.Glu1919Lys)	rs1227869359
NM_001042492.3(NF1):c.6029T>A (p.Val2010Glu)	rs2151553215
NM_001042492.3(NF1):c.6295C>T (p.His2099Tyr)	rs1060500382
NM_001042492.3(NF1):c.6377T>A (p.Val2126Asp)	rs1597843145
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro)	rs199474756
NM_001042492.3(NF1):c.6623C>G (p.Ala2208Gly)	rs1555534886
NM_001042492.3(NF1):c.7334T>G (p.Val2445Gly)	rs1567623931
NM_001042492.3(NF1):c.746T>C (p.Leu249Pro)	rs1567826623
NM_001042492.3(NF1):c.7970+7A>G	rs1597867052
NM_001042492.3(NF1):c.8114-3C>G	rs2151585945
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr)	rs1417994243
NM_001042492.3(NF1):c.980T>C (p.Leu327Pro)	rs201624827

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