ClinVar Miner

List of variants in gene NF1 reported as pathogenic by OMIM

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Gene type:
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Total variants: 45
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HGVS dbSNP
NF1, 1-BP DEL, 4071C
NF1, 42-BP DUP
NF1, 5-BP DEL
NF1, 80-KB DEL
NF1, ALU INS
NF1, DEL
NF1, IVS34, G-A, +18
NM_000267.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_000267.3(NF1):c.1260+1G>A rs267606603
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1523T>C (p.Leu508Pro) rs137854558
NM_000267.3(NF1):c.1642-8A>G rs267606602
NM_000267.3(NF1):c.2531T>G (p.Leu844Arg) rs137854566
NM_000267.3(NF1):c.2970_2972delAAT (p.Met992del) rs267606606
NM_000267.3(NF1):c.3104T>G (p.Met1035Arg) rs137854553
NM_000267.3(NF1):c.3113+1G>A rs267606599
NM_000267.3(NF1):c.3728T>C (p.Leu1243Pro) rs137854564
NM_000267.3(NF1):c.3827G>C (p.Arg1276Pro) rs137854556
NM_000267.3(NF1):c.4021C>T (p.Gln1341Ter) rs137854559
NM_000267.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_000267.3(NF1):c.4095_4096insTG (p.His1366Cysfs) rs267606608
NM_000267.3(NF1):c.4168C>T (p.Leu1390Phe) rs199474789
NM_000267.3(NF1):c.4173A>T (p.Arg1391Ser) rs137854554
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.4312_4314delGAA (p.Glu1438del) rs267606607
NM_000267.3(NF1):c.4614G>A (p.Trp1538Ter) rs137854555
NM_000267.3(NF1):c.4661+1G>C
NM_000267.3(NF1):c.5448dupC (p.Ser1817Leufs) rs267606596
NM_000267.3(NF1):c.5465_5466insT (p.Lys1823Glnfs) rs267606597
NM_000267.3(NF1):c.5710G>T (p.Glu1904Ter) rs137854565
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) rs137854552
NM_000267.3(NF1):c.5845A>T (p.Arg1949Ter) rs267606595
NM_000267.3(NF1):c.5944-5A>G rs267606604
NM_000267.3(NF1):c.6200T>C (p.Leu2067Pro) rs137854561
NM_000267.3(NF1):c.6427C>A (p.Leu2143Met) rs137854551
NM_000267.3(NF1):c.6511T>A (p.Tyr2171Asn) rs267606598
NM_000267.3(NF1):c.7126+3A>C rs267606610
NM_000267.3(NF1):c.8042dupA (p.Tyr2681Terfs) rs267606601
NM_000267.3(NF1):c.945_946delGCinsAA (p.Leu316Met) rs267606609
NM_001042492.2(NF1):c.1541_1542delAG (p.Gln514Argfs) rs267606600
NM_001042492.2(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.2(NF1):c.3784del (p.Ser1262Leufs)
NM_001042492.2(NF1):c.5469dupT (p.Ile1824Tyrfs) rs267606605
NM_001042492.2(NF1):c.5858T>C (p.Leu1953Pro) rs199474792

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