ClinVar Miner

List of variants reported as uncertain significance for Neurofibromatosis, type 1 by Genome Diagnostics Laboratory, The Hospital for Sick Children

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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001042492.3(NF1):c.*1A>C rs876658388 0.00006
NM_001042492.3(NF1):c.4445T>C (p.Ile1482Thr) rs746994734 0.00004
NM_001042492.3(NF1):c.1241T>G (p.Leu414Arg) rs1334926587 0.00001
NM_001042492.3(NF1):c.1921A>G (p.Ser641Gly) rs769154907 0.00001
NM_001042492.3(NF1):c.4460C>T (p.Pro1487Leu) rs2067663223 0.00001
NM_001042492.3(NF1):c.4508A>G (p.Asn1503Ser) rs587781445 0.00001
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln) rs587781670 0.00001
NM_001042492.3(NF1):c.7298C>T (p.Thr2433Ile) rs755749772 0.00001
NM_001042492.3(NF1):c.8386A>C (p.Lys2796Gln) rs1383658117 0.00001
NM_001042492.3(NF1):c.91C>T (p.His31Tyr) rs786202864 0.00001
NM_001042492.3(NF1):c.1185+5G>A rs1597682182
NM_001042492.3(NF1):c.1527+5G>A rs1060500352
NM_001042492.3(NF1):c.1595T>C (p.Leu532Pro) rs199474737
NM_001042492.3(NF1):c.1655T>C (p.Leu552Pro) rs1555613193
NM_001042492.3(NF1):c.174C>T (p.Leu58=) rs2065657421
NM_001042492.3(NF1):c.1988G>A (p.Gly663Glu) rs2066993661
NM_001042492.3(NF1):c.2026A>C (p.Thr676Pro) rs2067015355
NM_001042492.3(NF1):c.204+3_204+6del rs1567814632
NM_001042492.3(NF1):c.2072delinsGGGC (p.Leu691delinsArgAla) rs2067017033
NM_001042492.3(NF1):c.2250A>G (p.Thr750=) rs876659061
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys) rs1555614438
NM_001042492.3(NF1):c.2989A>G (p.Arg997Gly) rs2067085335
NM_001042492.3(NF1):c.2989A>T (p.Arg997Trp) rs2067085335
NM_001042492.3(NF1):c.3171A>G (p.Ala1057=) rs2067102269
NM_001042492.3(NF1):c.3198-7_3198-4del rs371047262
NM_001042492.3(NF1):c.3198-8_3198-4del rs371047262
NM_001042492.3(NF1):c.3310C>G (p.Leu1104Val) rs140957113
NM_001042492.3(NF1):c.3460A>G (p.Asn1154Asp) rs2067137878
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala) rs2067142076
NM_001042492.3(NF1):c.3655G>C (p.Gly1219Arg) rs2067144197
NM_001042492.3(NF1):c.38T>C (p.Val13Ala) rs1911556061
NM_001042492.3(NF1):c.4000G>A (p.Glu1334Lys) rs878853892
NM_001042492.3(NF1):c.4011G>C (p.Arg1337=) rs2067448681
NM_001042492.3(NF1):c.4016T>C (p.Leu1339Pro) rs1567858306
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr) rs1555618516
NM_001042492.3(NF1):c.4349C>A (p.Ala1450Asp) rs2067636212
NM_001042492.3(NF1):c.4430G>C (p.Arg1477Thr) rs1060500293
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His) rs1555618837
NM_001042492.3(NF1):c.4522C>G (p.His1508Asp) rs1393895345
NM_001042492.3(NF1):c.4578-8G>C rs375758486
NM_001042492.3(NF1):c.4796C>A (p.Ser1599Tyr) rs1555619407
NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe) rs1555619407
NM_001042492.3(NF1):c.4835+3_4835+10delinsT rs2067767641
NM_001042492.3(NF1):c.4903_4917dup (p.Tyr1635_Tyr1639dup) rs2069327013
NM_001042492.3(NF1):c.5281G>C (p.Ala1761Pro) rs2069375243
NM_001042492.3(NF1):c.5310A>C (p.Thr1770=) rs2069376282
NM_001042492.3(NF1):c.5561T>A (p.Leu1854Gln) rs878853903
NM_001042492.3(NF1):c.5609+5G>T rs1597832498
NM_001042492.3(NF1):c.5619C>G (p.Ala1873=) rs786203335
NM_001042492.3(NF1):c.5746G>C (p.Ala1916Pro) rs62070718
NM_001042492.3(NF1):c.5933T>G (p.Leu1978Arg) rs2069606635
NM_001042492.3(NF1):c.6001G>C (p.Gly2001Arg) rs199474751
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe) rs2069671270
NM_001042492.3(NF1):c.6280C>T (p.Leu2094Phe) rs2069686019
NM_001042492.3(NF1):c.6427+5G>C rs1060500311
NM_001042492.3(NF1):c.6586A>G (p.Thr2196Ala) rs372169109
NM_001042492.3(NF1):c.6704+5G>A rs2069719353
NM_001042492.3(NF1):c.6820-8C>T rs1060503909
NM_001042492.3(NF1):c.6864A>G (p.Gln2288=) rs1064794756
NM_001042492.3(NF1):c.6953T>C (p.Val2318Ala) rs2069790813
NM_001042492.3(NF1):c.6955_6969del (p.Ala2319_Leu2323del) rs2069790969
NM_001042492.3(NF1):c.746T>G (p.Leu249Arg) rs1567826623
NM_001042492.3(NF1):c.7509C>T (p.Tyr2503=) rs1555536359
NM_001042492.3(NF1):c.7546C>T (p.Pro2516Ser) rs753977783
NM_001042492.3(NF1):c.761A>G (p.Asp254Gly) rs2066156209
NM_001042492.3(NF1):c.7970+3A>G rs1567627282
NM_001042492.3(NF1):c.7970+5G>A rs1567627286
NM_001042492.3(NF1):c.821T>C (p.Leu274Pro) rs2066157974
NM_001042492.3(NF1):c.899T>C (p.Leu300Pro) rs2066505649
NM_001042492.3(NF1):c.978_980del (p.Leu327del) rs2066507983
NM_001042492.3(NF1):c.987A>G (p.Lys329=) rs2066508210

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