ClinVar Miner

List of variants in gene NF1 reported as pathogenic by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 47
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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.1318C>T (p.Arg440Ter) rs778405030 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.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001042492.3(NF1):c.1062G>C (p.Lys354Asn) rs1131691118
NM_001042492.3(NF1):c.1440del (p.Lys480fs) rs2066786100
NM_001042492.3(NF1):c.147del (p.Lys48_Tyr49insTer) rs1597626031
NM_001042492.3(NF1):c.1682_1688dup (p.Asp564fs) rs2144004346
NM_001042492.3(NF1):c.1721+1G>C rs1131691096
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.1929dup (p.Ser644fs) rs2066991676
NM_001042492.3(NF1):c.233del (p.Asn78fs) rs1438566555
NM_001042492.3(NF1):c.2410-1G>C rs1057518792
NM_001042492.3(NF1):c.288+4A>G rs781459468
NM_001042492.3(NF1):c.2991-1G>A rs1060500273
NM_001042492.3(NF1):c.3113+2T>C rs876658997
NM_001042492.3(NF1):c.3222_3223del (p.Glu1074fs) rs2067122558
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3820_3823del (p.Leu1274fs)
NM_001042492.3(NF1):c.3822_3823del (p.Phe1275fs) rs1555615472
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.479+1G>A rs1555606137
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter) rs1131691994
NM_001042492.3(NF1):c.5067C>A (p.Tyr1689Ter) rs756708811
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5806_5812+1del rs2069454695
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter) rs1555534918
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7184del (p.Leu2394_Leu2395insTer) rs2069870374
NM_001042492.3(NF1):c.7284del (p.Lys2428fs) rs2070077334
NM_001042492.3(NF1):c.731-2A>G rs1555608924
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.7368del (p.Lys2456fs)
NM_001042492.3(NF1):c.7428del (p.Ile2478fs)
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7778del (p.Leu2593fs) rs1567626919
NM_001042492.3(NF1):c.7970+1G>A rs1555536773
NM_001042492.3(NF1):c.889-2A>G rs878853922

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