ClinVar Miner

List of variants studied for Neurofibromatosis, type 1 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1627C>T (p.Gln543Ter) rs894292181 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter) rs876657715
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1260+6T>A
NM_001042492.3(NF1):c.1345_1346insGA (p.Lys449fs) rs2143914781
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.1413del (p.Lys471_Val472insTer) rs746149047
NM_001042492.3(NF1):c.1601del (p.Pro534fs) rs2143986751
NM_001042492.3(NF1):c.1754T>G (p.Leu585Ter) rs775670722
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1809_1810del (p.Leu604fs) rs2144016775
NM_001042492.3(NF1):c.2066del (p.Val689fs)
NM_001042492.3(NF1):c.2366del (p.Lys789fs)
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg) rs1555605393
NM_001042492.3(NF1):c.2823del (p.Ser942fs) rs2067074423
NM_001042492.3(NF1):c.288+5G>A rs1555605409
NM_001042492.3(NF1):c.2948del (p.Leu983fs) rs2067084444
NM_001042492.3(NF1):c.3113+1G>A rs267606599
NM_001042492.3(NF1):c.3113+1G>C rs267606599
NM_001042492.3(NF1):c.3144G>A (p.Trp1048Ter) rs1555614635
NM_001042492.3(NF1):c.3351_3355del (p.Cys1117_Glu1119delinsTer) rs2151434514
NM_001042492.3(NF1):c.3394del (p.Arg1132fs)
NM_001042492.3(NF1):c.3448T>C (p.Ser1150Pro) rs2067137547
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_001042492.3(NF1):c.3772T>A (p.Trp1258Arg)
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.4672C>T (p.His1558Tyr) rs1468638747
NM_001042492.3(NF1):c.4738G>T (p.Glu1580Ter) rs2067764827
NM_001042492.3(NF1):c.5269-14C>G rs753463683
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter) rs1555533555
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter) rs1057518807
NM_001042492.3(NF1):c.7151_7152insG (p.Ser2384_Asn2385insTer)
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_001042492.3(NF1):c.764del (p.Gly255fs)
NM_001042492.3(NF1):c.889-2A>G rs878853922

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