ClinVar Miner

List of variants in gene NF1 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1260+1604A>G rs1131691067
NM_001042492.3(NF1):c.154dup (p.Ser52fs) rs1131691109
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.247C>T (p.Gln83Ter) rs746824139
NM_001042492.3(NF1):c.2511G>A (p.Trp837Ter) rs1555614211
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2665dup (p.Thr889fs) rs886041348
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3562C>T (p.Gln1188Ter) rs2067142295
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.4234A>G (p.Arg1412Gly) rs1555618515
NM_001042492.3(NF1):c.4783C>T (p.Gln1595Ter) rs1597753263
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp) rs1060500316
NM_001042492.3(NF1):c.4892del (p.Thr1630_Leu1631insTer) rs1555533290
NM_001042492.3(NF1):c.5789_5790del (p.Cys1930fs) rs2069454362
NM_001042492.3(NF1):c.5812+2T>C rs1555533887
NM_001042492.3(NF1):c.6372_6373del (p.Leu2125fs)
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.6643-2A>G rs1597844547
NM_001042492.3(NF1):c.6704+1G>A rs1060500376
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6982_6983del (p.Val2328fs) rs2508770270
NM_001042492.3(NF1):c.72_73dup (p.Thr25fs) rs2143625237
NM_001042492.3(NF1):c.7359C>A (p.Cys2453Ter) rs1555536126
NM_001042492.3(NF1):c.7409del (p.Asn2470fs) rs1135402906
NM_001042492.3(NF1):c.7457+1del
NM_001042492.3(NF1):c.7508_7511del (p.Tyr2503fs)
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.8059_8060del (p.Ser2687fs) rs1060500387
NM_001042492.3(NF1):c.820_823dup (p.Ile275fs) rs2066157933
NM_001042492.3(NF1):c.880_881insATTC (p.Met294fs)
NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer) rs1555610893

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