List of variants in gene NF1 reported as uncertain significance by PreventionGenetics, part of Exact Sciences

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: 101

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.1062+113A>G	rs868553650	0.00021
NM_001042492.3(NF1):c.2191C>T (p.Leu731Phe)	rs185204667	0.00012
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)	rs368654378	0.00009
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)	rs376655102	0.00007
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile)	rs149055633	0.00006
NM_001042492.3(NF1):c.7870-8C>A	rs372441422	0.00006
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile)	rs145191978	0.00005
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)	rs138227618	0.00005
NM_001042492.3(NF1):c.181A>G (p.Ile61Val)	rs754295034	0.00004
NM_001042492.3(NF1):c.7046G>A (p.Arg2349His)	rs864622065	0.00004
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)	rs779727341	0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)	rs200302954	0.00003
NM_001042492.3(NF1):c.2747A>G (p.Asn916Ser)	rs765043916	0.00003
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln)	rs560262404	0.00003
NM_001042492.3(NF1):c.529A>G (p.Ile177Val)	rs766213678	0.00002
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn)	rs934837854	0.00002
NM_001042492.3(NF1):c.1082G>C (p.Ser361Thr)	rs876660103	0.00001
NM_001042492.3(NF1):c.1369C>T (p.His457Tyr)	rs757560526	0.00001
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln)	rs1350468182	0.00001
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu)	rs767069721	0.00001
NM_001042492.3(NF1):c.2666C>G (p.Thr889Arg)	rs369912079	0.00001
NM_001042492.3(NF1):c.3079G>A (p.Asp1027Asn)	rs774066804	0.00001
NM_001042492.3(NF1):c.348A>T (p.Glu116Asp)	rs1231174547	0.00001
NM_001042492.3(NF1):c.404G>A (p.Arg135Gln)	rs1060500244	0.00001
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr)	rs876660908	0.00001
NM_001042492.3(NF1):c.4098C>G (p.His1366Gln)	rs1555617377	0.00001
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met)	rs185660700	0.00001
NM_001042492.3(NF1):c.5293A>G (p.Thr1765Ala)	rs747584987	0.00001
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe)	rs1060500280	0.00001
NM_001042492.3(NF1):c.5536C>T (p.Arg1846Trp)	rs769843989	0.00001
NM_001042492.3(NF1):c.5951A>G (p.Asn1984Ser)	rs764291252	0.00001
NM_001042492.3(NF1):c.6334G>A (p.Ala2112Thr)	rs749672954	0.00001
NM_001042492.3(NF1):c.6449G>C (p.Arg2150Thr)	rs2069704009	0.00001
NM_001042492.3(NF1):c.7039A>G (p.Ser2347Gly)	rs1060500318	0.00001
NM_001042492.3(NF1):c.7087A>G (p.Ile2363Val)	rs137966859	0.00001
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val)	rs748027595	0.00001
NM_001042492.3(NF1):c.7810C>G (p.Leu2604Val)	rs776602307	0.00001
NM_001042492.3(NF1):c.8324A>G (p.Asn2775Ser)	rs772090874	0.00001
NM_001042492.3(NF1):c.83A>C (p.Gln28Pro)	rs587782686	0.00001
NM_001042492.3(NF1):c.91C>T (p.His31Tyr)	rs786202864	0.00001
NM_001042492.3(NF1):c.964A>G (p.Ile322Val)	rs755007999	0.00001
NM_001042492.3(NF1):c.1058T>G (p.Leu353Arg)
NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg)	rs1555611004
NM_001042492.3(NF1):c.1358G>C (p.Gly453Ala)
NM_001042492.3(NF1):c.1392+5_1392+6delinsTT	rs587782851
NM_001042492.3(NF1):c.1630G>A (p.Glu544Lys)
NM_001042492.3(NF1):c.1700T>C (p.Val567Ala)	rs2144004648
NM_001042492.3(NF1):c.1762C>T (p.His588Tyr)
NM_001042492.3(NF1):c.1775G>A (p.Ser592Asn)	rs760256377
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln)	rs1060500288
NM_001042492.3(NF1):c.1997C>T (p.Ser666Phe)	rs2066993930
NM_001042492.3(NF1):c.2054C>A (p.Thr685Asn)	rs876658190
NM_001042492.3(NF1):c.2239A>G (p.Met747Val)	rs1471232737
NM_001042492.3(NF1):c.2331_2337delinsCAAAATGGGA (p.Trp777_Asp779delinsCysLysMetGly)
NM_001042492.3(NF1):c.2410-12T>C	rs876657932
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys)	rs746324091
NM_001042492.3(NF1):c.3014T>C (p.Met1005Thr)	rs1555614504
NM_001042492.3(NF1):c.3708+3_3708+6del	rs2151435840
NM_001042492.3(NF1):c.3765A>T (p.Gln1255His)	rs766896025
NM_001042492.3(NF1):c.3842C>G (p.Ala1281Gly)	rs1060500341
NM_001042492.3(NF1):c.3947A>C (p.His1316Pro)	rs751023085
NM_001042492.3(NF1):c.4085G>A (p.Arg1362Gln)	rs540108477
NM_001042492.3(NF1):c.4118G>C (p.Cys1373Ser)
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys)	rs1555618495
NM_001042492.3(NF1):c.4264T>C (p.Tyr1422His)	rs17884349
NM_001042492.3(NF1):c.4312G>T (p.Gly1438Cys)	rs1555618559
NM_001042492.3(NF1):c.4382T>G (p.Met1461Arg)	rs754639587
NM_001042492.3(NF1):c.4444A>G (p.Ile1482Val)	rs1060500362
NM_001042492.3(NF1):c.4471G>A (p.Ala1491Thr)	rs2067663552
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His)	rs1555618837
NM_001042492.3(NF1):c.469A>G (p.Ile157Val)	rs1555606118
NM_001042492.3(NF1):c.4760T>C (p.Leu1587Ser)
NM_001042492.3(NF1):c.4793_4807del (p.Thr1598_Gly1602del)
NM_001042492.3(NF1):c.4814T>A (p.Ile1605Asn)
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp)	rs1060500316
NM_001042492.3(NF1):c.4835G>A (p.Arg1612Lys)	rs1555619423
NM_001042492.3(NF1):c.497T>C (p.Val166Ala)
NM_001042492.3(NF1):c.5083C>T (p.Arg1695Trp)	rs1567611500
NM_001042492.3(NF1):c.511A>G (p.Asn171Asp)	rs1597643796
NM_001042492.3(NF1):c.514G>A (p.Val172Ile)	rs1555607083
NM_001042492.3(NF1):c.520G>A (p.Val174Ile)	rs1555607084
NM_001042492.3(NF1):c.5221C>A (p.His1741Asn)	rs780529277
NM_001042492.3(NF1):c.5411C>G (p.Ala1804Gly)
NM_001042492.3(NF1):c.5422A>G (p.Thr1808Ala)
NM_001042492.3(NF1):c.5585T>C (p.Leu1862Ser)
NM_001042492.3(NF1):c.5668G>T (p.Gly1890Cys)	rs1597834706
NM_001042492.3(NF1):c.592G>A (p.Ala198Thr)	rs1555608643
NM_001042492.3(NF1):c.6235G>C (p.Ala2079Pro)
NM_001042492.3(NF1):c.6799A>G (p.Ile2267Val)
NM_001042492.3(NF1):c.6801A>G (p.Ile2267Met)	rs876659381
NM_001042492.3(NF1):c.7030A>G (p.Thr2344Ala)	rs1555535189
NM_001042492.3(NF1):c.7067C>G (p.Pro2356Arg)
NM_001042492.3(NF1):c.713C>T (p.Pro238Leu)	rs1567826152
NM_001042492.3(NF1):c.7382T>C (p.Leu2461Pro)
NM_001042492.3(NF1):c.74C>T (p.Thr25Ile)	rs1555604874
NM_001042492.3(NF1):c.7846C>G (p.Gln2616Glu)	rs1555536713
NM_001042492.3(NF1):c.7864G>A (p.Val2622Ile)	rs1471144465
NM_001042492.3(NF1):c.7963C>T (p.Pro2655Ser)	rs587781791
NM_001042492.3(NF1):c.871G>A (p.Glu291Lys)	rs2143786875
NM_001042492.3(NF1):c.888+789A>G	rs1597660974
NM_001042492.3(NF1):c.976A>G (p.Lys326Glu)	rs1597680956

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.