ClinVar Miner

List of variants in gene NF1 reported as likely pathogenic by Genome Diagnostics Laboratory, The Hospital for Sick Children

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Gene type:
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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1073_1074insA (p.Phe358fs) rs1555610971
NM_001042492.3(NF1):c.108_111dup (p.His38Ter) rs2065655815
NM_001042492.3(NF1):c.1129_1136del (p.Ile377fs) rs2066520145
NM_001042492.3(NF1):c.1181_1182dup (p.Lys395fs) rs1597682159
NM_001042492.3(NF1):c.1185G>A (p.Lys395=) rs1567835847
NM_001042492.3(NF1):c.1254del (p.Thr419fs) rs761430357
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg) rs1555612288
NM_001042492.3(NF1):c.1722-2A>C rs763983337
NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg) rs199474774
NM_001042492.3(NF1):c.1738del (p.Tyr580fs) rs786204255
NM_001042492.3(NF1):c.1931_1934del (p.Ser644fs) rs2066991740
NM_001042492.3(NF1):c.1986del (p.Asn664fs) rs2066993468
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_001042492.3(NF1):c.2251+1G>T rs1555613843
NM_001042492.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_001042492.3(NF1):c.2326-1G>C rs1567848100
NM_001042492.3(NF1):c.2326-4_2326-1del rs2067037065
NM_001042492.3(NF1):c.2350T>A (p.Trp784Arg) rs199474730
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro) rs137854566
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.270_272dup (p.Glu91dup) rs2065717991
NM_001042492.3(NF1):c.2835del (p.Phe945fs) rs1567849208
NM_001042492.3(NF1):c.2855_2856insG (p.Leu953fs) rs2067082667
NM_001042492.3(NF1):c.2894_2900del (p.Ile965fs) rs2067083472
NM_001042492.3(NF1):c.2940del (p.Glu981fs) rs2067084312
NM_001042492.3(NF1):c.3007_3020del (p.Gly1003fs) rs2067090473
NM_001042492.3(NF1):c.3009_3018del (p.Asn1004fs) rs2067090561
NM_001042492.3(NF1):c.3063_3067dup (p.Met1023delinsLysTer) rs2067092112
NM_001042492.3(NF1):c.3114-1G>A rs1555614611
NM_001042492.3(NF1):c.3196del (p.Arg1066fs) rs2067102964
NM_001042492.3(NF1):c.3211G>C (p.Ala1071Pro) rs2067122183
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser) rs1555614848
NM_001042492.3(NF1):c.3362_3365del (p.Glu1121fs) rs2067135200
NM_001042492.3(NF1):c.3736_3737del (p.Leu1246fs) rs2067186293
NM_001042492.3(NF1):c.3818del (p.Thr1273fs) rs2067188459
NM_001042492.3(NF1):c.3826del (p.Arg1276fs) rs2067188667
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_001042492.3(NF1):c.3911T>G (p.Leu1304Ter) rs761512189
NM_001042492.3(NF1):c.4018del (p.Leu1340fs) rs2067448975
NM_001042492.3(NF1):c.4099_4108dup (p.Gln1370fs) rs2067451446
NM_001042492.3(NF1):c.4185dup (p.Arg1396fs) rs2067620305
NM_001042492.3(NF1):c.4208del (p.Gly1403fs) rs2067621019
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) rs199474789
NM_001042492.3(NF1):c.4367del (p.Thr1456fs) rs2067637088
NM_001042492.3(NF1):c.4489del (p.Ser1497fs) rs2067664000
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu) rs1567863004
NM_001042492.3(NF1):c.4619_4622delinsAA (p.Ala1540fs) rs2067690116
NM_001042492.3(NF1):c.4885del (p.Leu1628_Leu1629insTer) rs2069326575
NM_001042492.3(NF1):c.5044T>C (p.Cys1682Arg) rs1597829901
NM_001042492.3(NF1):c.5236dup (p.Leu1746fs) rs2069337884
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.3(NF1):c.5329del (p.Val1777fs) rs2069377259
NM_001042492.3(NF1):c.5374del (p.Cys1792fs) rs2069378463
NM_001042492.3(NF1):c.5387del (p.Glu1796fs) rs2069379168
NM_001042492.3(NF1):c.5552C>T (p.Pro1851Leu) rs1555533638
NM_001042492.3(NF1):c.5606dup (p.Leu1869fs) rs2069386536
NM_001042492.3(NF1):c.5668G>C (p.Gly1890Arg) rs1597834706
NM_001042492.3(NF1):c.5731dup (p.Ile1911fs) rs2069452094
NM_001042492.3(NF1):c.573del (p.Lys191fs) rs2065904589
NM_001042492.3(NF1):c.5812+2_5812+3insTA rs2069454921
NM_001042492.3(NF1):c.5852dup (p.Trp1952fs) rs2069602426
NM_001042492.3(NF1):c.5933T>C (p.Leu1978Pro) rs2069606635
NM_001042492.3(NF1):c.610dup (p.Leu204fs) rs1135402793
NM_001042492.3(NF1):c.6147+1G>C rs1060500296
NM_001042492.3(NF1):c.6148-1G>C rs1555534661
NM_001042492.3(NF1):c.6148-2A>G rs2069681259
NM_001042492.3(NF1):c.6221del (p.Met2074fs) rs2069683635
NM_001042492.3(NF1):c.6252C>A (p.Tyr2084Ter) rs2069684411
NM_001042492.3(NF1):c.6374T>G (p.Leu2125Arg) rs1597843129
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs) rs1597843186
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter) rs2069717916
NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn) rs1060500373
NM_001042492.3(NF1):c.6829_6830del (p.Ser2277fs) rs2069742524
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs) rs1555535027
NM_001042492.3(NF1):c.6921G>C (p.Lys2307Asn) rs1057523533
NM_001042492.3(NF1):c.6939del (p.Ala2314fs) rs2069790028
NM_001042492.3(NF1):c.6994_6995delinsATTT (p.Ser2332fs) rs2069792273
NM_001042492.3(NF1):c.7062+2del rs2069795581
NM_001042492.3(NF1):c.7278_7279del (p.Cys2426_Asp2427delinsTer) rs2070076932
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del) rs1085307506
NM_001042492.3(NF1):c.737C>A (p.Ala246Glu) rs2066155612
NM_001042492.3(NF1):c.7456_7457+7del rs2070109067
NM_001042492.3(NF1):c.7537C>T (p.Gln2513Ter) rs2070170274
NM_001042492.3(NF1):c.7615+1del rs1355691590
NM_001042492.3(NF1):c.7947_7948del (p.Phe2650fs) rs2070298589
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter) rs1555608970
NM_001042492.3(NF1):c.8142del (p.Phe2714fs) rs2070340004

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