ClinVar Miner

List of variants in gene NF1 reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 175
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HGVS dbSNP
NM_000267.3(NF1):c.*1164G>A rs140110377
NM_000267.3(NF1):c.*125del rs397754615
NM_000267.3(NF1):c.*2089G>A rs17881973
NM_000267.3(NF1):c.*2201G>A rs7406983
NM_000267.3(NF1):c.*2215_*2219del rs201032889
NM_000267.3(NF1):c.*2829T>C rs1048317
NM_000267.3(NF1):c.*498T>G rs9900729
NM_000267.3(NF1):c.*4T>C rs201044568
NM_000267.3(NF1):c.*871A>T rs568276164
NM_000267.3(NF1):c.*873A>T rs3058624
NM_000267.3(NF1):c.111G>A (p.Glu37=) rs1555604893
NM_000267.3(NF1):c.1248A>T (p.Arg416=) rs1403345664
NM_000267.3(NF1):c.1263C>T (p.Ser421=) rs767410768
NM_000267.3(NF1):c.1359T>C (p.Gly453=) rs1555611595
NM_000267.3(NF1):c.1371C>T (p.His457=) rs1318894606
NM_000267.3(NF1):c.1374A>G (p.Pro458=) rs1555611601
NM_000267.3(NF1):c.1541A>C (p.Gln514Pro) rs775369084
NM_000267.3(NF1):c.1569A>G (p.Ala523=) rs1555612830
NM_000267.3(NF1):c.1599C>G (p.Val533=) rs369458366
NM_000267.3(NF1):c.1641+7G>C rs1060503887
NM_000267.3(NF1):c.1677T>C (p.Asp559=) rs1209447028
NM_000267.3(NF1):c.168C>T (p.Ser56=) rs17881168
NM_000267.3(NF1):c.1707A>G (p.Thr569=) rs1060503898
NM_000267.3(NF1):c.1722-6C>T rs878853869
NM_000267.3(NF1):c.1875C>T (p.Leu625=) rs974172157
NM_000267.3(NF1):c.1887G>A (p.Gly629=) rs1555613561
NM_000267.3(NF1):c.1902T>A (p.Ile634=) rs1555613566
NM_000267.3(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_000267.3(NF1):c.1944A>G (p.Glu648=) rs1465016257
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.2031C>G (p.Pro677=) rs753177596
NM_000267.3(NF1):c.2034G>A (p.Pro678=) rs2285892
NM_000267.3(NF1):c.2085G>A (p.Leu695=) rs1060503889
NM_000267.3(NF1):c.2097C>T (p.Asp699=) rs547905840
NM_000267.3(NF1):c.2130C>T (p.Phe710=) rs1555613806
NM_000267.3(NF1):c.2175A>G (p.Glu725=) rs1555613817
NM_000267.3(NF1):c.2181A>G (p.Ser727=) rs1203116843
NM_000267.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131
NM_000267.3(NF1):c.2271A>G (p.Lys757=) rs1555613916
NM_000267.3(NF1):c.2325+7C>T rs1555613937
NM_000267.3(NF1):c.2361A>G (p.Ala787=) rs371589922
NM_000267.3(NF1):c.2415T>G (p.Ala805=) rs1555614182
NM_000267.3(NF1):c.2457T>C (p.His819=) rs976466916
NM_000267.3(NF1):c.2544G>A (p.Gly848=) rs17883704
NM_000267.3(NF1):c.2592C>T (p.Ser864=) rs761499485
NM_000267.3(NF1):c.264T>C (p.Asp88=) rs1359209770
NM_000267.3(NF1):c.2742G>A (p.Arg914=) rs1555614324
NM_000267.3(NF1):c.2781T>G (p.Pro927=) rs1555614337
NM_000267.3(NF1):c.2841C>T (p.Ser947=) rs1555614355
NM_000267.3(NF1):c.2850+17T>C
NM_000267.3(NF1):c.2851-10C>G rs1555614412
NM_000267.3(NF1):c.2990+7A>G rs1555614465
NM_000267.3(NF1):c.2991-6A>G rs1191095886
NM_000267.3(NF1):c.3081T>C (p.Asp1027=) rs1555614532
NM_000267.3(NF1):c.3192T>C (p.Leu1064=) rs1555614649
NM_000267.3(NF1):c.3195A>G (p.Thr1065=) rs1555614650
NM_000267.3(NF1):c.3198-4_3198-3insTTTC rs864622717
NM_000267.3(NF1):c.3198-6_3198-1del
NM_000267.3(NF1):c.3246T>C (p.Gly1082=) rs876660670
NM_000267.3(NF1):c.3340T>C (p.Leu1114=) rs1555614928
NM_000267.3(NF1):c.340C>T (p.Leu114=) rs7207410
NM_000267.3(NF1):c.3417A>T (p.Ala1139=) rs864622524
NM_000267.3(NF1):c.3468C>T (p.Asn1156=) rs147955381
NM_000267.3(NF1):c.3496+19T>C rs9890283
NM_000267.3(NF1):c.3513G>A (p.Lys1171=) rs765438014
NM_000267.3(NF1):c.3519C>T (p.Leu1173=) rs1555615020
NM_000267.3(NF1):c.3549G>C (p.Leu1183=) rs1051842
NM_000267.3(NF1):c.3639A>G (p.Thr1213=) rs1555615069
NM_000267.3(NF1):c.3648T>A (p.Gly1216=) rs1060503897
NM_000267.3(NF1):c.369C>G (p.Thr123=) rs146691765
NM_000267.3(NF1):c.3708+7G>A rs1555615115
NM_000267.3(NF1):c.372T>C (p.Cys124=) rs1555606078
NM_000267.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_000267.3(NF1):c.3891A>G (p.Leu1297=) rs753036396
NM_000267.3(NF1):c.3906T>C (p.Asp1302=) rs549058591
NM_000267.3(NF1):c.4110+9A>T rs1555617387
NM_000267.3(NF1):c.4111-8_4111-6del rs751729752
NM_000267.3(NF1):c.4125T>A (p.Arg1375=) rs1555618496
NM_000267.3(NF1):c.4146T>C (p.Gly1382=) rs761772247
NM_000267.3(NF1):c.4188C>T (p.Ala1396=) rs1555618524
NM_000267.3(NF1):c.4194C>T (p.Val1398=) rs886038395
NM_000267.3(NF1):c.4200G>T (p.Pro1400=) rs201648604
NM_000267.3(NF1):c.4368-8T>C rs1555618801
NM_000267.3(NF1):c.4416T>C (p.Asn1472=) rs1060503888
NM_000267.3(NF1):c.4514+11C>G rs190614908
NM_000267.3(NF1):c.4584A>G (p.Pro1528=) rs1305841472
NM_000267.3(NF1):c.4608A>G (p.Thr1536=) rs876658990
NM_000267.3(NF1):c.4641G>A (p.Lys1547=) rs1424931932
NM_000267.3(NF1):c.480-5T>C rs1555607069
NM_000267.3(NF1):c.4819T>C (p.Leu1607=) rs10512435
NM_000267.3(NF1):c.4866G>A (p.Val1622=) rs17880521
NM_000267.3(NF1):c.4869C>T (p.Asp1623=) rs1555533304
NM_000267.3(NF1):c.4950C>T (p.Tyr1650=) rs1060500255
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.4977T>C (p.Tyr1659=) rs1555533351
NM_000267.3(NF1):c.504A>G (p.Ser168=) rs876658638
NM_000267.3(NF1):c.5187C>T (p.Asp1729=) rs1210732116
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.5427C>T (p.Arg1809=) rs1245095693
NM_000267.3(NF1):c.5454C>A (p.Ile1818=) rs865839207
NM_000267.3(NF1):c.5562T>C (p.Asn1854=) rs1275173622
NM_000267.3(NF1):c.5595A>G (p.Leu1865=) rs1555533854
NM_000267.3(NF1):c.5610G>A (p.Gln1870=) rs1555533857
NM_000267.3(NF1):c.586+10_586+15del rs1555607130
NM_000267.3(NF1):c.5913T>C (p.Ile1971=) rs766233634
NM_000267.3(NF1):c.5970A>C (p.Leu1990=) rs147995863
NM_000267.3(NF1):c.5982C>A (p.Ile1994=) rs1433863184
NM_000267.3(NF1):c.61-1G>T
NM_000267.3(NF1):c.61-2A>T rs1131691100
NM_000267.3(NF1):c.61-4del rs551568608
NM_000267.3(NF1):c.6123C>T (p.Cys2041=) rs1555534669
NM_000267.3(NF1):c.6126A>G (p.Leu2042=) rs1060503911
NM_000267.3(NF1):c.6129T>C (p.Ser2043=) rs765094377
NM_000267.3(NF1):c.6150A>G (p.Gln2050=) rs1060503910
NM_000267.3(NF1):c.6165T>C (p.Asp2055=) rs1555534682
NM_000267.3(NF1):c.6234T>C (p.His2078=) rs751517473
NM_000267.3(NF1):c.6261T>C (p.Thr2087=) rs1555534728
NM_000267.3(NF1):c.6265T>C (p.Leu2089=) rs780230966
NM_000267.3(NF1):c.6324C>T (p.Ile2108=) rs786203078
NM_000267.3(NF1):c.6330C>T (p.His2110=) rs17881788
NM_000267.3(NF1):c.6365-6T>C rs772738883
NM_000267.3(NF1):c.6537A>C (p.Thr2179=) rs747576584
NM_000267.3(NF1):c.6579+42T>C
NM_000267.3(NF1):c.6580-4T>C rs1555534908
NM_000267.3(NF1):c.6580-8T>C rs752079977
NM_000267.3(NF1):c.6618C>T (p.Asp2206=) rs876659371
NM_000267.3(NF1):c.6756+7G>C rs200532525
NM_000267.3(NF1):c.6757-5A>G rs1555535022
NM_000267.3(NF1):c.6757-7C>T rs1555535020
NM_000267.3(NF1):c.6759A>C (p.Ala2253=) rs1555535025
NM_000267.3(NF1):c.6829C>T (p.Leu2277=) rs1555535049
NM_000267.3(NF1):c.6858+9T>C rs1555535059
NM_000267.3(NF1):c.6859-5G>A rs1555535158
NM_000267.3(NF1):c.6966T>C (p.His2322=) rs1555535187
NM_000267.3(NF1):c.7000-7_7000-6delinsC rs864622725
NM_000267.3(NF1):c.7000-9C>T rs1555535398
NM_000267.3(NF1):c.702G>A (p.Leu234=) rs1801052
NM_000267.3(NF1):c.7095T>C (p.Phe2365=) rs876660271
NM_000267.3(NF1):c.7104A>C (p.Ala2368=) rs1555535447
NM_000267.3(NF1):c.7126+8dup rs753952604
NM_000267.3(NF1):c.7134G>A (p.Arg2378=) rs1555536017
NM_000267.3(NF1):c.7182A>G (p.Thr2394=) rs539553128
NM_000267.3(NF1):c.7235C>T (p.Thr2412Ile) rs755749772
NM_000267.3(NF1):c.7251C>T (p.Tyr2417=) rs1060500385
NM_000267.3(NF1):c.7263A>G (p.Leu2421=) rs753224880
NM_000267.3(NF1):c.730+8T>C rs1555608771
NM_000267.3(NF1):c.7320T>C (p.Leu2440=) rs1555536133
NM_000267.3(NF1):c.7365T>C (p.Tyr2455=) rs181397225
NM_000267.3(NF1):c.7398A>C (p.Thr2466=) rs149924365
NM_000267.3(NF1):c.7407G>A (p.Glu2469=) rs1555536339
NM_000267.3(NF1):c.7507C>T (p.Leu2503=) rs1555536366
NM_000267.3(NF1):c.7518G>C (p.Gly2506=) rs1555536369
NM_000267.3(NF1):c.7521A>G (p.Gln2507=) rs55865524
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_000267.3(NF1):c.7552+8T>C rs1555536383
NM_000267.3(NF1):c.75A>C (p.Thr25=) rs768754175
NM_000267.3(NF1):c.7692C>T (p.Ser2564=) rs17881980
NM_000267.3(NF1):c.771T>C (p.Ala257=) rs766932517
NM_000267.3(NF1):c.7731G>A (p.Val2577=) rs1555536699
NM_000267.3(NF1):c.7977A>T (p.Pro2659=) rs749163014
NM_000267.3(NF1):c.804A>G (p.Pro268=) rs759964997
NM_000267.3(NF1):c.8051-70A>T rs192112633
NM_000267.3(NF1):c.8064T>C (p.Asn2688=) rs1555537015
NM_000267.3(NF1):c.8088G>A (p.Pro2696=) rs2285895
NM_000267.3(NF1):c.819C>T (p.Leu273=) rs765595990
NM_000267.3(NF1):c.8314+6509A>T
NM_000267.3(NF1):c.834A>G (p.Pro278=) rs1318820078
NM_000267.3(NF1):c.8355C>T (p.Gly2785=) rs1555538535
NM_000267.3(NF1):c.843C>A (p.Ile281=) rs146094856
NM_000267.3(NF1):c.846G>A (p.Gln282=) rs138840528
NM_000267.3(NF1):c.930T>C (p.His310=) rs1555610865
NM_000267.3(NF1):c.96C>G (p.Thr32=) rs1555604886
NM_001042492.3(NF1):c.3199G>T (p.Asp1067Tyr)
NM_001042492.3(NF1):c.3204G>T (p.Leu1068Phe)
NM_001042492.3(NF1):c.64C>T (p.Pro22Ser)

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