ClinVar Miner

List of variants reported for Neurofibromatosis, type 1 by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_001042492.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131 0.00005
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.4373A>G (p.Glu1458Gly) rs878853894 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.7211C>T (p.Ala2404Val) rs771706364 0.00001
NM_001042492.2(NF1):c.[6708delT;6710C>G]
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.125_126dup (p.Leu43fs) rs1555604897
NM_001042492.3(NF1):c.1393-2A>G rs1555612266
NM_001042492.3(NF1):c.1400_1415del (p.Thr467fs) rs1555612270
NM_001042492.3(NF1):c.2251+1G>A rs1555613843
NM_001042492.3(NF1):c.2503C>T (p.Gln835Ter) rs1555614207
NM_001042492.3(NF1):c.2511G>A (p.Trp837Ter) rs1555614211
NM_001042492.3(NF1):c.2674del (p.Ser892fs) rs1555614296
NM_001042492.3(NF1):c.282del (p.Ala95fs) rs1555605404
NM_001042492.3(NF1):c.2850+1G>A rs1131691122
NM_001042492.3(NF1):c.2953C>T (p.Gln985Ter) rs1555614455
NM_001042492.3(NF1):c.3111dup (p.Arg1038Ter) rs1131691127
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs) rs1064794276
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.4110+1G>T rs1555617383
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) rs199474789
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser) rs137854554
NM_001042492.3(NF1):c.4332+1G>A rs1555618572
NM_001042492.3(NF1):c.4332+1del rs1567862095
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) rs199474743
NM_001042492.3(NF1):c.4631C>A (p.Ala1544Glu) rs1555619015
NM_001042492.3(NF1):c.4905T>G (p.Tyr1635Ter) rs948982039
NM_001042492.3(NF1):c.499_502del (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.5157del (p.Ile1719fs) rs1555533382
NM_001042492.3(NF1):c.5295_5296del (p.Ala1767fs) rs1555533552
NM_001042492.3(NF1):c.5317dup (p.Leu1773fs) rs1555533561
NM_001042492.3(NF1):c.5404del (p.Thr1802fs) rs1597832056
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter) rs753529924
NM_001042492.3(NF1):c.560del (p.Cys187fs) rs1555607107
NM_001042492.3(NF1):c.5830del (p.Leu1944fs) rs1555534378
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5907_5908del (p.Arg1970fs) rs863224835
NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg) rs199474751
NM_001042492.3(NF1):c.6623C>G (p.Ala2208Gly) rs1555534886
NM_001042492.3(NF1):c.6794del (p.Lys2265fs) rs1597845155
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6921+1G>A rs1060500355
NM_001042492.3(NF1):c.7152dup (p.Asn2385Ter) rs1555535434
NM_001042492.3(NF1):c.7278T>A (p.Cys2426Ter) rs1567623508
NM_001042492.3(NF1):c.7330dup (p.Thr2444fs) rs1064794278
NM_001042492.3(NF1):c.7811del (p.Leu2604fs) rs1555536701
NM_001042492.3(NF1):c.7847_7850del (p.Gln2616fs) rs1597866554
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.7982T>A (p.Leu2661Ter) rs1567627709
NM_001042492.3(NF1):c.8084del (p.Pro2695fs) rs1555536928
NM_001042492.3(NF1):c.889-1G>C rs587781517
NM_001042492.3(NF1):c.979_997del (p.Leu327fs) rs1597680978

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