ClinVar Miner

List of variants studied for Neurofibromatosis, type 1 by OMIM

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001042492.3(NF1):c.1260+1G>A rs267606603 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NC_000017.11:(?_31094927)_(31377677_?)del
NF1, 1-BP DEL, 4071C
NF1, ALU INS
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_001042492.3(NF1):c.1523T>C (p.Leu508Pro) rs137854558
NM_001042492.3(NF1):c.1642-8A>G rs267606602
NM_001042492.3(NF1):c.2531T>G (p.Leu844Arg) rs137854566
NM_001042492.3(NF1):c.3104T>G (p.Met1035Arg) rs137854553
NM_001042492.3(NF1):c.3113+1G>A rs267606599
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro) rs137854564
NM_001042492.3(NF1):c.3784del (p.Ser1262fs) rs1567852567
NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro) rs137854556
NM_001042492.3(NF1):c.4021C>T (p.Gln1341Ter) rs137854559
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser) rs137854554
NM_001042492.3(NF1):c.4724+1G>C rs1555619056
NM_001042492.3(NF1):c.5186_5190del (p.Ala1729fs) rs2151538841
NM_001042492.3(NF1):c.5469dup (p.Ile1824fs) rs267606605
NM_001042492.3(NF1):c.5511dup (p.Ser1838fs) rs267606596
NM_001042492.3(NF1):c.5528_5529insT (p.Lys1844fs) rs267606597
NM_001042492.3(NF1):c.5773G>T (p.Glu1925Ter) rs137854565
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro) rs199474792
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5908A>T (p.Arg1970Ter) rs267606595
NM_001042492.3(NF1):c.6007-5A>G rs267606604
NM_001042492.3(NF1):c.6490C>A (p.Leu2164Met) rs137854551
NM_001042492.3(NF1):c.6574T>A (p.Tyr2192Asn) rs267606598
NM_001042492.3(NF1):c.945_946delinsAA (p.Leu316Met) rs267606609

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