ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 140
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.2191C>T (p.Leu731Phe) rs185204667 0.00013
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.7006G>A (p.Ala2336Thr) rs587781428 0.00006
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) rs149055633 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.8238T>G (p.Ile2746Met) rs779789452 0.00005
NM_001042492.3(NF1):c.181A>G (p.Ile61Val) rs754295034 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 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.2570A>G (p.Asn857Ser) rs1060500299 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.3604G>T (p.Ala1202Ser) rs146641724 0.00003
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg) rs751023085 0.00003
NM_001042492.3(NF1):c.8479G>T (p.Ala2827Ser) rs199878086 0.00003
NM_001042492.3(NF1):c.4657C>G (p.Pro1553Ala) rs1033427343 0.00002
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser) rs745407845 0.00002
NM_001042492.3(NF1):c.7087A>G (p.Ile2363Val) rs137966859 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.1891G>A (p.Gly631Arg) rs757424379 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.2998C>T (p.Arg1000Cys) rs367684252 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.4085G>A (p.Arg1362Gln) rs540108477 0.00001
NM_001042492.3(NF1):c.4098C>G (p.His1366Gln) rs1555617377 0.00001
NM_001042492.3(NF1):c.4459C>T (p.Pro1487Ser) rs1265291141 0.00001
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His) rs1555618837 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.529A>G (p.Ile177Val) rs766213678 0.00001
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe) rs1060500280 0.00001
NM_001042492.3(NF1):c.551A>G (p.Asn184Ser) rs876659849 0.00001
NM_001042492.3(NF1):c.5536C>T (p.Arg1846Trp) rs769843989 0.00001
NM_001042492.3(NF1):c.5731A>G (p.Ile1911Val) rs146523293 0.00001
NM_001042492.3(NF1):c.5951A>G (p.Asn1984Ser) rs764291252 0.00001
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser) rs1024333224 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.680A>T (p.Tyr227Phe) rs1555608742 0.00001
NM_001042492.3(NF1):c.7030A>G (p.Thr2344Ala) rs1555535189 0.00001
NM_001042492.3(NF1):c.7039A>G (p.Ser2347Gly) rs1060500318 0.00001
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser) rs763082717 0.00001
NM_001042492.3(NF1):c.7142A>G (p.Asn2381Ser) rs878853912 0.00001
NM_001042492.3(NF1):c.7298C>T (p.Thr2433Ile) rs755749772 0.00001
NM_001042492.3(NF1):c.7306G>A (p.Val2436Met) rs876659856 0.00001
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val) rs748027595 0.00001
NM_001042492.3(NF1):c.7397T>C (p.Ile2466Thr) rs771915484 0.00001
NM_001042492.3(NF1):c.7810C>G (p.Leu2604Val) rs776602307 0.00001
NM_001042492.3(NF1):c.824T>C (p.Ile275Thr) rs1406698961 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) rs2066510063
NM_001042492.3(NF1):c.1063-5T>A
NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg) rs1555611004
NM_001042492.3(NF1):c.1358G>C (p.Gly453Ala) rs876660915
NM_001042492.3(NF1):c.1392+5_1392+6delinsTT rs587782851
NM_001042492.3(NF1):c.1463G>C (p.Ser488Thr)
NM_001042492.3(NF1):c.1630G>A (p.Glu544Lys) rs2544840961
NM_001042492.3(NF1):c.1700T>C (p.Val567Ala) rs2144004648
NM_001042492.3(NF1):c.1762C>T (p.His588Tyr) rs2066962798
NM_001042492.3(NF1):c.1775G>A (p.Ser592Asn) rs760256377
NM_001042492.3(NF1):c.1778G>A (p.Ser593Asn) rs2066963100
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln) rs1060500288
NM_001042492.3(NF1):c.1868A>C (p.His623Pro)
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) rs2508170534
NM_001042492.3(NF1):c.2410-12T>C rs876657932
NM_001042492.3(NF1):c.2420G>A (p.Ser807Asn) rs1597715090
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.3971C>T (p.Thr1324Ile) rs2067195762
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln) rs1060500379
NM_001042492.3(NF1):c.4118G>C (p.Cys1373Ser) rs786202990
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.4360C>G (p.Leu1454Val) rs1408832954
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.4643C>T (p.Pro1548Leu)
NM_001042492.3(NF1):c.4657C>T (p.Pro1553Ser) rs1033427343
NM_001042492.3(NF1):c.466C>T (p.Arg156Cys) rs755890242
NM_001042492.3(NF1):c.469A>G (p.Ile157Val) rs1555606118
NM_001042492.3(NF1):c.4760T>C (p.Leu1587Ser) rs2508445083
NM_001042492.3(NF1):c.4793_4807del (p.Thr1598_Gly1602del) rs2508445372
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg) rs878853898
NM_001042492.3(NF1):c.4814T>A (p.Ile1605Asn) rs2508445677
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) rs2143707034
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) rs2151541278
NM_001042492.3(NF1):c.5422A>G (p.Thr1808Ala) rs2151541307
NM_001042492.3(NF1):c.5558C>G (p.Thr1853Arg) rs2069385223
NM_001042492.3(NF1):c.5585T>C (p.Leu1862Ser) rs2151541881
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) rs2151554542
NM_001042492.3(NF1):c.6425G>T (p.Ser2142Ile) rs876658896
NM_001042492.3(NF1):c.6527T>C (p.Ile2176Thr) rs2069705362
NM_001042492.3(NF1):c.6799A>G (p.Ile2267Val) rs2508759741
NM_001042492.3(NF1):c.6801A>G (p.Ile2267Met) rs876659381
NM_001042492.3(NF1):c.7067C>G (p.Pro2356Arg) rs1555535402
NM_001042492.3(NF1):c.713C>T (p.Pro238Leu) rs1567826152
NM_001042492.3(NF1):c.7355G>T (p.Arg2452Leu) rs1555536122
NM_001042492.3(NF1):c.7382T>C (p.Leu2461Pro) rs2070105653
NM_001042492.3(NF1):c.7429C>G (p.Pro2477Ala) rs876658722
NM_001042492.3(NF1):c.7456A>T (p.Arg2486Trp) rs752162999
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.8107C>A (p.Leu2703Met) rs955074155
NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg) rs876657933
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

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