ClinVar Miner

List of variants in gene NF1 reported as uncertain significance for Neurofibromatosis-Noonan syndrome

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Gene type:
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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.*871del rs759306393 0.01272
NM_001042492.3(NF1):c.*1899A>G rs547663480 0.00100
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_001042492.3(NF1):c.*3189G>A rs548353495 0.00071
NM_001042492.3(NF1):c.*875T>A rs886052806 0.00070
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001042492.3(NF1):c.*3091A>C rs570154156 0.00032
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val) rs146315101 0.00031
NM_001042492.3(NF1):c.*2247T>C rs745818146 0.00021
NM_001042492.3(NF1):c.*1208C>T rs556230487 0.00019
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00019
NM_001042492.3(NF1):c.*3266G>A rs548117626 0.00018
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_001042492.3(NF1):c.*3227A>G rs1050612282 0.00013
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_001042492.3(NF1):c.2178G>C (p.Val726=) rs369590240 0.00010
NM_001042492.3(NF1):c.*160A>T rs17882413 0.00009
NM_001042492.3(NF1):c.*3248G>A rs527971565 0.00009
NM_001042492.3(NF1):c.1392+6A>T rs200798969 0.00007
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile) rs376655102 0.00007
NM_001042492.3(NF1):c.*101T>C rs962788938 0.00006
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser) rs138227618 0.00005
NM_001042492.3(NF1):c.*1202A>C rs886052807 0.00004
NM_001042492.3(NF1):c.*2071G>A rs886052811 0.00004
NM_001042492.3(NF1):c.*2073T>C rs139460673 0.00003
NM_001042492.3(NF1):c.*506T>A rs886052804 0.00003
NM_001042492.3(NF1):c.864G>C (p.Val288=) rs201181517 0.00003
NM_001042492.3(NF1):c.*194A>C rs1445645953 0.00002
NM_001042492.3(NF1):c.*2540T>G rs896039933 0.00002
NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg) rs779546178 0.00002
NM_001042492.3(NF1):c.7457+8G>T rs376147282 0.00002
NM_001042492.3(NF1):c.*1150C>T rs577642473 0.00001
NM_001042492.3(NF1):c.*1187C>A rs1184430338 0.00001
NM_001042492.3(NF1):c.*124C>T rs535911128 0.00001
NM_001042492.3(NF1):c.*887C>G rs2070712503 0.00001
NM_001042492.3(NF1):c.1444A>G (p.Thr482Ala) rs770201871 0.00001
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg) rs140653372 0.00001
NM_001042492.3(NF1):c.205-13T>A rs886052797 0.00001
NM_001042492.3(NF1):c.2794A>G (p.Met932Val) rs886052800 0.00001
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=) rs876659944 0.00001
NM_001042492.3(NF1):c.3891A>G (p.Leu1297=) rs753036396 0.00001
NM_001042492.3(NF1):c.3906T>G (p.Asp1302Glu) rs549058591 0.00001
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp) rs773378630 0.00001
NM_001042492.3(NF1):c.7110C>T (p.His2370=) rs201881479 0.00001
NM_001042492.3(NF1):c.730+16dup rs373999174 0.00001
NM_001042492.3(NF1):c.7525C>T (p.Pro2509Ser) rs886052803 0.00001
NM_001042492.3(NF1):c.7616-15A>C rs952554990 0.00001
NM_001042492.3(NF1):c.*1425C>T rs886052808
NM_001042492.3(NF1):c.*1446T>C rs886052809
NM_001042492.3(NF1):c.*1479A>C rs866235175
NM_001042492.3(NF1):c.*1987C>T rs886052810
NM_001042492.3(NF1):c.*2010A>G rs2070728204
NM_001042492.3(NF1):c.*2132T>C rs551806545
NM_001042492.3(NF1):c.*2638_*2646delinsTTATG rs886052813
NM_001042492.3(NF1):c.*2777C>A rs185015732
NM_001042492.3(NF1):c.*2884T>A rs886052814
NM_001042492.3(NF1):c.*3174A>C rs886052815
NM_001042492.3(NF1):c.*3514G>C rs574282086
NM_001042492.3(NF1):c.*3514G>T rs574282086
NM_001042492.3(NF1):c.*385C>T rs1597883440
NM_001042492.3(NF1):c.*584G>C rs190144445
NM_001042492.3(NF1):c.*584G>T rs190144445
NM_001042492.3(NF1):c.*585G>A rs372804411
NM_001042492.3(NF1):c.*859AT[9] rs369548314
NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro) rs886052798
NM_001042492.3(NF1):c.1846-8T>A rs886052799
NM_001042492.3(NF1):c.1866T>C (p.Cys622=) rs753245823
NM_001042492.3(NF1):c.2409+15T>C rs2067039946
NM_001042492.3(NF1):c.270G>A (p.Leu90=) rs2065717955
NM_001042492.3(NF1):c.2992T>C (p.Tyr998His)
NM_001042492.3(NF1):c.3213A>G (p.Ala1071=) rs786202077
NM_001042492.3(NF1):c.3712G>A (p.Glu1238Lys)
NM_001042492.3(NF1):c.4530A>G (p.Leu1510=) rs876660089
NM_001042492.3(NF1):c.6555G>A (p.Arg2185=) rs786203189
NM_001042492.3(NF1):c.6630G>A (p.Leu2210=) rs886052801
NM_001042492.3(NF1):c.7007C>A (p.Ala2336Glu) rs886052802
NM_001042492.3(NF1):c.7246C>T (p.Leu2416=) rs786201310
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His) rs587782168

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