ClinVar Miner

List of variants reported as pathogenic for Neurofibromatosis, type 1 by Mendelics

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1186-1G>A rs876660782
NM_001042492.3(NF1):c.1663_1666del (p.Leu555fs) rs2066928095
NM_001042492.3(NF1):c.1854del (p.Asp618fs) rs1597710342
NM_001042492.3(NF1):c.1888dup (p.Val630fs) rs1567846670
NM_001042492.3(NF1):c.1950del (p.Leu650fs) rs1597710658
NM_001042492.3(NF1):c.1989del (p.Asn664fs) rs1202226733
NM_001042492.3(NF1):c.2244dup (p.Ser749fs) rs1597712758
NM_001042492.3(NF1):c.233del (p.Asn78fs) rs1438566555
NM_001042492.3(NF1):c.236T>G (p.Leu79Ter) rs1597629765
NM_001042492.3(NF1):c.2449dup (p.Met817fs) rs1567848755
NM_001042492.3(NF1):c.2537C>A (p.Ala846Asp) rs1555614229
NM_001042492.3(NF1):c.2545_2546dup (p.Val850fs) rs1567848878
NM_001042492.3(NF1):c.2851-2A>T rs2151430455
NM_001042492.3(NF1):c.3047_3048del (p.Cys1016fs) rs1597716910
NM_001042492.3(NF1):c.3152del (p.Gly1051fs) rs2151432442
NM_001042492.3(NF1):c.3299C>A (p.Ser1100Ter) rs2067124341
NM_001042492.3(NF1):c.3323del (p.Thr1108fs) rs2151434456
NM_001042492.3(NF1):c.333del (p.Lys111fs) rs1597635722
NM_001042492.3(NF1):c.3381_3382del (p.Gly1128fs) rs1597719504
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile) rs371544233
NM_001042492.3(NF1):c.380_381insT (p.Asn128fs) rs2143672139
NM_001042492.3(NF1):c.4076dup (p.Gln1360fs) rs1135402852
NM_001042492.3(NF1):c.4107C>A (p.Tyr1369Ter) rs1597735272
NM_001042492.3(NF1):c.4234A>G (p.Arg1412Gly) rs1555618515
NM_001042492.3(NF1):c.4381dup (p.Met1461fs) rs1597745689
NM_001042492.3(NF1):c.4431-1G>T rs1597746891
NM_001042492.3(NF1):c.4463del (p.Thr1488fs) rs1597746962
NM_001042492.3(NF1):c.4769T>A (p.Leu1590Ter) rs2067765689
NM_001042492.3(NF1):c.5046dup (p.Asn1683Ter) rs1597829913
NM_001042492.3(NF1):c.5269-2A>T rs1555533548
NM_001042492.3(NF1):c.5379_5380dup (p.Val1794fs) rs1597832021
NM_001042492.3(NF1):c.5501C>G (p.Ser1834Ter) rs1597832235
NM_001042492.3(NF1):c.5609+1G>T rs1131691117
NM_001042492.3(NF1):c.5773del (p.Glu1925fs) rs2151544918
NM_001042492.3(NF1):c.61-2A>T rs1131691100
NM_001042492.3(NF1):c.6360_6363dup (p.Thr2122fs) rs1597843096
NM_001042492.3(NF1):c.6540del (p.Ser2181fs) rs1597843853
NM_001042492.3(NF1):c.6546C>G (p.Tyr2182Ter) rs876659768
NM_001042492.3(NF1):c.6682C>T (p.Gln2228Ter) rs2069718249
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.7062+1G>T rs863224492
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_001042492.3(NF1):c.7458-2_7459del rs1597862010
NM_001042492.3(NF1):c.7724_7725dup (p.Asp2576fs) rs1597865858
NM_001042492.3(NF1):c.7923del (p.Glu2641fs) rs1597866921
NM_001042492.3(NF1):c.844C>T (p.Gln282Ter) rs753054046
NM_001042492.3(NF1):c.888+1G>T rs1135402799
NM_001042492.3(NF1):c.889-2A>T rs878853922

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