ClinVar Miner

List of variants in gene NF1 reported as pathogenic by Medical Genomics Laboratory,Department of Genetics UAB

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Gene type:
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Total variants: 67
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HGVS dbSNP
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.1393-2488_1642-648delinsAATAG
NM_000267.3(NF1):c.1393-2652_1528-892del
NM_000267.3(NF1):c.1393-3329_3975-6377del
NM_000267.3(NF1):c.1527+1509_1641+1137del
NM_000267.3(NF1):c.1527+443_3709-761dup
NM_000267.3(NF1):c.1528-960_1761del
NM_000267.3(NF1):c.1641+156_3975-2222del
NM_000267.3(NF1):c.1845+537_4661+331del
NM_000267.3(NF1):c.1846-496_2410-645delinsTAGC
NM_000267.3(NF1):c.1846-613_4773-1009delinsTTAGGTTTAT
NM_000267.3(NF1):c.1988_2410-218delinsTGTC
NM_000267.3(NF1):c.204+155_2990+53del
NM_000267.3(NF1):c.2048_5041del
NM_000267.3(NF1):c.2252-70_2326-39dup rs1555613896
NM_000267.3(NF1):c.2410-110_2850+65delinsAAAA rs1555614169
NM_000267.3(NF1):c.2851-151_2990+121dup rs1555614386
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.3709-941_3974+2711del
NM_000267.3(NF1):c.3975-1922_4111-2448delinsTTTACTTAGGT
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.4773-2116_7127-1817delinsAGTTACC
NM_000267.3(NF1):c.4773-23713_7907+14del
NM_000267.3(NF1):c.480-134_8315-6206del
NM_000267.3(NF1):c.480-2989_586+3445del
NM_000267.3(NF1):c.4941_7127-2901del
NM_000267.3(NF1):c.5425C>A (p.Arg1809Ser) rs797045139
NM_000267.3(NF1):c.5425C>G (p.Arg1809Gly) rs797045139
NM_000267.3(NF1):c.5425C>T (p.Arg1809Cys) rs797045139
NM_000267.3(NF1):c.5426G>C (p.Arg1809Pro) rs771529172
NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) rs771529172
NM_000267.3(NF1):c.5546+336_5943+244del
NM_000267.3(NF1):c.5749+189_6999+1035del
NM_000267.3(NF1):c.5749+6_6858+633delins130
NM_000267.3(NF1):c.5749+750_5943+244del
NM_000267.3(NF1):c.5750-1086_5943+244del
NM_000267.3(NF1):c.5750-1748_6184delinsCTA
NM_000267.3(NF1):c.5750-374_5944-176del
NM_000267.3(NF1):c.5750-460_5943+244del rs1555534307
NM_000267.3(NF1):c.586+1209_1845+35del
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.731-302_8314+3681del
NM_000267.3(NF1):c.7884_8315-5528del
NM_000267.3(NF1):c.7907+149_8097+723dup
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.889-453_908del rs1555610774
NM_000267.3(NF1):c.889-8107_1261-278del
NM_000267.3(NF1):c.889-8381_6757-5del
NM_000267.3(NF1):c.889-894_1261-284del
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

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