ClinVar Miner

List of variants reported as pathogenic for Neurofibromatosis, type 1 by UAB Medical Genomics Laboratory, UAB Medicine

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ClinVar version:
Total variants: 187
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.6148-13T>A rs1411146465 0.00003
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001042492.3(NF1):c.205-6T>A rs1243948503 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NG_009018.1(NF1):g.[134769_136954del2186;136931_139830del2900]
NM_000267.3(NF1):c.1260+220_7553-1095del
NM_000267.3(NF1):c.1393-1905_2251+85dup
NM_000267.3(NF1):c.1393-3329_3975-6377del
NM_000267.3(NF1):c.1527+443_3709-761dup
NM_000267.3(NF1):c.1641+156_3975-2222del
NM_000267.3(NF1):c.1845+537_4661+331del
NM_000267.3(NF1):c.1846-613_4773-1009delinsTTAGGTTTAT
NM_000267.3(NF1):c.204+155_2990+53del
NM_000267.3(NF1):c.2048_5041del
NM_000267.3(NF1):c.288+230_480-1812delins323
NM_000267.3(NF1):c.289-1171_888+1963dup
NM_000267.3(NF1):c.289-1237_586+3325del
NM_000267.3(NF1):c.289-950_586+3043del
NM_000267.3(NF1):c.289-956_586+4999del
NM_000267.3(NF1):c.3496+57_4772+2639dup
NM_000267.3(NF1):c.3708+598_4772+16224del
NM_000267.3(NF1):c.3709-266_7259-397delinsCAG
NM_000267.3(NF1):c.4368-391_4515-122delins105
NM_000267.3(NF1):c.4515-343_8314+3380del
NM_000267.3(NF1):c.4661+1660_4773-8837del
NM_000267.3(NF1):c.4662-1076_4772+1300delins260
NM_000267.3(NF1):c.4662-397_4773-14262del
NM_000267.3(NF1):c.4773-1597_7395-685dup
NM_000267.3(NF1):c.4773-2116_7127-1817delinsAGTTACC
NM_000267.3(NF1):c.4773-22561_6311del
NM_000267.3(NF1):c.4773-23713_7907+14del
NM_000267.3(NF1):c.480-134_8315-6206del
NM_000267.3(NF1):c.480-2832_888+5938delinsTTGAA
NM_000267.3(NF1):c.4941_7127-2901del
NM_000267.3(NF1):c.5749+189_6999+1035del
NM_000267.3(NF1):c.5749+6_6858+633delins130
NM_000267.3(NF1):c.586+1209_1845+35del
NM_000267.3(NF1):c.586+2095_1261-2276delinsGTGG
NM_000267.3(NF1):c.586+3099_1261-1045del
NM_000267.3(NF1):c.587-282_8315-3687del
NM_000267.3(NF1):c.5943+265_7000-999delins15
NM_000267.3(NF1):c.5943+448_7127-414del
NM_000267.3(NF1):c.60+24136_587-5022del
NM_000267.3(NF1):c.60+3120_3975-326del
NM_000267.3(NF1):c.61-12088_204+933del
NM_000267.3(NF1):c.61-16315_479+99del
NM_000267.3(NF1):c.655-60_888+5621delins135
NM_000267.3(NF1):c.7000-499_7908-479del
NM_000267.3(NF1):c.731-302_8314+3681del
NM_000267.3(NF1):c.7884_8315-5528del
NM_000267.3(NF1):c.888+3798_5750-2053del
NM_000267.3(NF1):c.888+5515_1261-1635del
NM_000267.3(NF1):c.888+8334_1721+34delinsTC
NM_000267.3(NF1):c.889-1633_7395-667del
NM_000267.3(NF1):c.889-8107_1261-278del
NM_000267.3(NF1):c.889-8381_6757-5del
NM_000267.3(NF1):c.[4110+1791_7394+859dup;4110+1798del]
NM_000267.3:c.3975-1046_4110+902deins333
NM_000267.3:c.3975-364_4515-510indel810
NM_000267.3:c.5547-961+5943+244del
NM_000267.3:c.7566_8314+3321_delinsCGCCACGGC
NM_001042492.3(NF1):c.1063-13G>A rs1131691066
NM_001042492.3(NF1):c.1063-14T>A rs538708444
NM_001042492.3(NF1):c.1063-3T>G rs758206740
NM_001042492.3(NF1):c.1261-13T>A rs1597688674
NM_001042492.3(NF1):c.1261-19G>A rs1597688663
NM_001042492.3(NF1):c.1261-21T>G rs1597688656
NM_001042492.3(NF1):c.1393-2488_1642-648delinsAATAG
NM_001042492.3(NF1):c.1393-2652_1528-892del
NM_001042492.3(NF1):c.1527+1509_1641+1137del
NM_001042492.3(NF1):c.1528-960_1761del
NM_001042492.3(NF1):c.1642-10A>G rs1597706578
NM_001042492.3(NF1):c.1642-3C>G rs1597706610
NM_001042492.3(NF1):c.1642-7A>G rs1597706592
NM_001042492.3(NF1):c.1722-20_1722-17del rs1597708558
NM_001042492.3(NF1):c.1722-26T>C rs1597708542
NM_001042492.3(NF1):c.1722-3C>A rs770211384
NM_001042492.3(NF1):c.1722-8_1722-3delinsAAAA rs1597708581
NM_001042492.3(NF1):c.1846-496_2410-645delinsTAGC
NM_001042492.3(NF1):c.1988_2410-218delinsTGTC
NM_001042492.3(NF1):c.205-1284_289-944del
NM_001042492.3(NF1):c.205-19T>A rs1597629649
NM_001042492.3(NF1):c.2252-13T>A rs778325867
NM_001042492.3(NF1):c.2252-33_2252-8del rs1597713206
NM_001042492.3(NF1):c.2252-3T>G rs1057518842
NM_001042492.3(NF1):c.2252-70_2326-39dup rs1555613896
NM_001042492.3(NF1):c.2326-3T>G rs876658946
NM_001042492.3(NF1):c.2326-6T>G rs1597713670
NM_001042492.3(NF1):c.2410-110_2850+65delinsAAAA rs1555614169
NM_001042492.3(NF1):c.2410-13A>G rs1567848711
NM_001042492.3(NF1):c.2410-14A>G rs773710071
NM_001042492.3(NF1):c.2410-15A>G rs1597715031
NM_001042492.3(NF1):c.2410-16A>G rs1567848704
NM_001042492.3(NF1):c.2410-18C>G rs533210843
NM_001042492.3(NF1):c.2410-3T>G rs1450743199
NM_001042492.3(NF1):c.2410-9T>A rs1597715061
NM_001042492.3(NF1):c.2524_2531delinsAGCTTCCA (p.Gly842_Leu844delinsSerPheHis) rs1597715286
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_001042492.3(NF1):c.2531T>A (p.Leu844His) rs137854566
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro) rs137854566
NM_001042492.3(NF1):c.2531T>G (p.Leu844Arg) rs137854566
NM_001042492.3(NF1):c.2533T>C (p.Cys845Arg) rs1060500254
NM_001042492.3(NF1):c.2534G>A (p.Cys845Tyr) rs1060500367
NM_001042492.3(NF1):c.2536G>C (p.Ala846Pro) rs1555614226
NM_001042492.3(NF1):c.2537C>A (p.Ala846Asp) rs1555614229
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2540T>G (p.Leu847Arg) rs199474747
NM_001042492.3(NF1):c.2542G>A (p.Gly848Arg) rs1060500368
NM_001042492.3(NF1):c.2542G>C (p.Gly848Arg) rs1060500368
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu) rs199474748
NM_001042492.3(NF1):c.2851-151_2990+121dup rs1555614386
NM_001042492.3(NF1):c.2851-6_2851-3del rs1597716256
NM_001042492.3(NF1):c.2991-11del rs1597716765
NM_001042492.3(NF1):c.3114-3T>G rs773097190
NM_001042492.3(NF1):c.3114-8T>G rs1597717471
NM_001042492.3(NF1):c.3315-3C>G rs752318318
NM_001042492.3(NF1):c.3315-8T>G rs764783865
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3446T>C (p.Met1149Thr) rs1131691121
NM_001042492.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3447G>C (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3709-941_3974+2711del
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001042492.3(NF1):c.3827G>T (p.Arg1276Leu) rs137854556
NM_001042492.3(NF1):c.3871-13T>A rs1597722866
NM_001042492.3(NF1):c.3975-11T>G rs1597734976
NM_001042492.3(NF1):c.3975-1922_4174-2448delinsTTTACTTAGGT
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln) rs137854550
NM_001042492.3(NF1):c.4331A>T (p.Lys1444Met) rs199474781
NM_001042492.3(NF1):c.4431-9T>G rs1597746884
NM_001042492.3(NF1):c.4578-19A>G rs1555618994
NM_001042492.3(NF1):c.4578-20_4578-18del rs1597748617
NM_001042492.3(NF1):c.4578-21T>C rs1597748607
NM_001042492.3(NF1):c.4578-3T>G rs1597748656
NM_001042492.3(NF1):c.4578-3del rs1597748663
NM_001042492.3(NF1):c.480-2989_586+3445del
NM_001042492.3(NF1):c.480-8C>G rs1597643692
NM_001042492.3(NF1):c.5269-14C>G rs753463683
NM_001042492.3(NF1):c.5269-19C>A rs755620051
NM_001042492.3(NF1):c.5269-8C>G rs1597831805
NM_001042492.3(NF1):c.5488C>A (p.Arg1830Ser) rs797045139
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly) rs797045139
NM_001042492.3(NF1):c.5489G>C (p.Arg1830Pro) rs771529172
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001042492.3(NF1):c.5609+336_6006+244del
NM_001042492.3(NF1):c.5812+750_6006+244del
NM_001042492.3(NF1):c.5813-1086_6006+244del
NM_001042492.3(NF1):c.5813-12_5813-9del rs1597839926
NM_001042492.3(NF1):c.5813-1748_6247delinsCTA
NM_001042492.3(NF1):c.5813-374_6007-176del
NM_001042492.3(NF1):c.5813-460_6006+244del rs1555534307
NM_001042492.3(NF1):c.587-14T>A rs940581106
NM_001042492.3(NF1):c.587-15_587-14del rs1597657969
NM_001042492.3(NF1):c.587-1766_888+1856del
NM_001042492.3(NF1):c.587-3C>G rs375188075
NM_001042492.3(NF1):c.6007-5A>G rs267606604
NM_001042492.3(NF1):c.61-5189_205-1285del
NM_001042492.3(NF1):c.61-6522_204+1022dup
NM_001042492.3(NF1):c.6148-16T>G rs769223408
NM_001042492.3(NF1):c.6148-3C>A rs1597842697
NM_001042492.3(NF1):c.6428-3C>G rs374014162
NM_001042492.3(NF1):c.6428-3del rs1597843640
NM_001042492.3(NF1):c.655-12_655-9del rs1597658505
NM_001042492.3(NF1):c.6705-17G>A rs1064795966
NM_001042492.3(NF1):c.6705-3C>A rs1131691079
NM_001042492.3(NF1):c.6705-3C>G rs1131691079
NM_001042492.3(NF1):c.6705-5T>G rs1597844956
NM_001042492.3(NF1):c.6705-6T>G rs1597844950
NM_001042492.3(NF1):c.6820-10T>G rs1597845883
NM_001042492.3(NF1):c.6820-9T>G rs1597845886
NM_001042492.3(NF1):c.7063-10T>G rs1597851210
NM_001042492.3(NF1):c.7063-3T>G rs1241158120
NM_001042492.3(NF1):c.7190-12T>A rs1597858284
NM_001042492.3(NF1):c.7190-20T>A rs1597858261
NM_001042492.3(NF1):c.731-14T>G rs1597659694
NM_001042492.3(NF1):c.7321+383_7925del
NM_001042492.3(NF1):c.7458-600_7615+735del
NM_001042492.3(NF1):c.7739-3C>G rs747382969
NM_001042492.3(NF1):c.7870-24_7870-19delinsTTTTAG rs1597866743
NM_001042492.3(NF1):c.7870-3C>G rs1597866792
NM_001042492.3(NF1):c.7970+149_8160+723dup
NM_001042492.3(NF1):c.8161-3C>G rs786203684
NM_001042492.3(NF1):c.889-21C>A rs753797445
NM_001042492.3(NF1):c.889-453_908del rs1555610774
NM_001042492.3(NF1):c.889-894_1261-284del

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