ClinVar Miner

List of variants in gene NF1 reported as uncertain significance by Center for Human Genetics, Inc

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Gene type:
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Total variants: 40
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HGVS dbSNP
NM_000267.3(NF1):c.1244A>G (p.His415Arg) rs1555611097
NM_000267.3(NF1):c.1260+6T>C rs1555611111
NM_000267.3(NF1):c.1260+6T>G rs1555611111
NM_000267.3(NF1):c.1328T>C (p.Phe443Ser) rs1555611581
NM_000267.3(NF1):c.1655T>G (p.Leu552Arg) rs1555613193
NM_000267.3(NF1):c.169G>A (p.Gly57Ser) rs779727341
NM_000267.3(NF1):c.200A>G (p.Asn67Ser) rs375038808
NM_000267.3(NF1):c.2294G>A (p.Arg765His) rs199474777
NM_000267.3(NF1):c.266C>A (p.Thr89Lys) rs1555605392
NM_000267.3(NF1):c.269T>G (p.Leu90Arg) rs1555605393
NM_000267.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_000267.3(NF1):c.3198-4T>C rs587782218
NM_000267.3(NF1):c.3498C>T (p.Gly1166=) rs2066733
NM_000267.3(NF1):c.3596C>G (p.Thr1199Arg) rs1555615047
NM_000267.3(NF1):c.3644T>C (p.Met1215Thr) rs1555615071
NM_000267.3(NF1):c.3656_3658del (p.Gly1219del) rs1555615077
NM_000267.3(NF1):c.3767T>G (p.Leu1256Arg) rs1555615457
NM_000267.3(NF1):c.4172G>C (p.Arg1391Thr) rs1555618516
NM_000267.3(NF1):c.4289A>T (p.Asn1430Ile) rs199474754
NM_000267.3(NF1):c.4306_4308del (p.Lys1436del) rs1555618653
NM_000267.3(NF1):c.4358C>T (p.Ala1453Val) rs587781553
NM_000267.3(NF1):c.4871T>G (p.Leu1624Arg) rs1555533305
NM_000267.3(NF1):c.5210G>C (p.Gly1737Ala) rs1358882546
NM_000267.3(NF1):c.5230A>G (p.Thr1744Ala) rs747584987
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.5613A>C (p.Leu1871Phe) rs876658130
NM_000267.3(NF1):c.5705C>G (p.Thr1902Arg) rs786203824
NM_000267.3(NF1):c.654+4del rs1555608683
NM_000267.3(NF1):c.6579+18A>G rs1555534893
NM_000267.3(NF1):c.6859-16A>G rs202158964
NM_000267.3(NF1):c.6905T>C (p.Leu2302Pro) rs1131691267
NM_000267.3(NF1):c.6943G>C (p.Ala2315Pro) rs587781428
NM_000267.3(NF1):c.6947T>G (p.Leu2316Arg) rs1555535179
NM_000267.3(NF1):c.7094T>C (p.Phe2365Ser) rs1555535439
NM_000267.3(NF1):c.7263A>G (p.Leu2421=) rs753224880
NM_000267.3(NF1):c.7556C>A (p.Thr2519Lys) rs1555536633
NM_000267.3(NF1):c.7807-13dup rs369360556
NM_000267.3(NF1):c.7807-20A>G rs574898272
NM_000267.3(NF1):c.7907+6T>G rs1555536775
NM_000267.3(NF1):c.8159C>A (p.Thr2720Lys) rs144178015

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