ClinVar Miner

List of variants in gene NF1 studied for connective tissue neoplasm

Included ClinVar conditions (122):
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Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP
NF1, IVS34, G-A, +18
NM_000267.3(NF1):c.1166A>G (p.His389Arg) rs149739570
NM_000267.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030
NM_000267.3(NF1):c.1588G>A (p.Val530Ile) rs145191978
NM_000267.3(NF1):c.1642-8A>G rs267606602
NM_000267.3(NF1):c.169G>A (p.Gly57Ser) rs779727341
NM_000267.3(NF1):c.1721+3A>G rs1057518904
NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173
NM_000267.3(NF1):c.2266C>T (p.Gln756Ter) rs1567847905
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.2495A>G (p.Asp832Gly) rs1060500283
NM_000267.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954
NM_000267.3(NF1):c.2747A>G (p.Asn916Ser) rs765043916
NM_000267.3(NF1):c.2970_2971del (p.Met991fs) rs1597716432
NM_000267.3(NF1):c.3359T>C (p.Val1120Ala) rs751571517
NM_000267.3(NF1):c.3371G>A (p.Ser1124Asn) rs374472758
NM_000267.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724
NM_000267.3(NF1):c.3811A>G (p.Met1271Val) rs746583007
NM_000267.3(NF1):c.3870+1G>T rs1131691075
NM_000267.3(NF1):c.4138A>T (p.Ser1380Cys) rs1060500310
NM_000267.3(NF1):c.4331A>G (p.Asn1444Ser) rs786202492
NM_000267.3(NF1):c.4346G>A (p.Ser1449Asn) rs876660093
NM_000267.3(NF1):c.4480C>T (p.Gln1494Ter) rs1567862991
NM_000267.3(NF1):c.4514+1G>A rs1279529138
NM_000267.3(NF1):c.4614G>A (p.Trp1538Ter) rs137854555
NM_000267.3(NF1):c.4703C>T (p.Thr1568Met) rs185660700
NM_000267.3(NF1):c.4773G>A (p.Arg1591=) rs1555533268
NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) rs771529172
NM_000267.3(NF1):c.5450C>G (p.Ser1817Cys) rs368654378
NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln) rs786202112
NM_000267.3(NF1):c.5666C>G (p.Ser1889Cys) rs751904277
NM_000267.3(NF1):c.5719G>T (p.Glu1907Ter) rs786203896
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.575G>A (p.Arg192Gln) rs587781670
NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) rs137854552
NM_000267.3(NF1):c.5928G>A (p.Trp1976Ter) rs876660696
NM_000267.3(NF1):c.5943+1G>A rs1555534433
NM_000267.3(NF1):c.6792C>A (p.Tyr2264Ter) rs772295894
NM_000267.3(NF1):c.6907C>T (p.Gln2303Ter) rs1131691073
NM_000267.3(NF1):c.7291C>T (p.Arg2431Cys) rs377662483
NM_000267.3(NF1):c.7333A>G (p.Ile2445Val) rs748027595
NM_000267.3(NF1):c.7457C>T (p.Thr2486Ile) rs149055633
NM_000267.3(NF1):c.7828A>G (p.Thr2610Ala) rs199474793
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe) rs201824349
NM_000267.3(NF1):c.8159C>T (p.Thr2720Met) rs144178015
NM_000267.3(NF1):c.845A>G (p.Gln282Arg) rs779034900
NM_000267.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.2(NF1):c.2351_2352delinsC (p.Trp784fs) rs1567848147
NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs) rs1597712665
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398

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