ClinVar Miner

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

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001042492.3(NF1):c.3198-4T>C rs587782218 0.00387
NM_001042492.3(NF1):c.6922-16A>G rs202158964 0.00030
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser) rs779727341 0.00003
NM_001042492.3(NF1):c.2294G>A (p.Arg765His) rs199474777 0.00002
NM_001042492.3(NF1):c.200A>G (p.Asn67Ser) rs375038808 0.00001
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val) rs587781553 0.00001
NM_001042492.3(NF1):c.5293A>G (p.Thr1765Ala) rs747584987 0.00001
NM_001042492.3(NF1):c.7326A>G (p.Leu2442=) rs753224880 0.00001
NM_001042492.3(NF1):c.1244A>G (p.His415Arg) rs1555611097
NM_001042492.3(NF1):c.1260+6T>C rs1555611111
NM_001042492.3(NF1):c.1260+6T>G rs1555611111
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser) rs1555611581
NM_001042492.3(NF1):c.1655T>G (p.Leu552Arg) rs1555613193
NM_001042492.3(NF1):c.266C>A (p.Thr89Lys) rs1555605392
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg) rs1555605393
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg) rs1555615047
NM_001042492.3(NF1):c.3644T>C (p.Met1215Thr) rs1555615071
NM_001042492.3(NF1):c.3656_3658del (p.Gly1219del) rs1555615077
NM_001042492.3(NF1):c.3767T>G (p.Leu1256Arg) rs1555615457
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr) rs1555618516
NM_001042492.3(NF1):c.4352A>T (p.Asn1451Ile) rs199474754
NM_001042492.3(NF1):c.4369_4371del (p.Lys1457del) rs1555618653
NM_001042492.3(NF1):c.4934T>G (p.Leu1645Arg) rs1555533305
NM_001042492.3(NF1):c.5273G>C (p.Gly1758Ala) rs1358882546
NM_001042492.3(NF1):c.5676A>C (p.Leu1892Phe) rs876658130
NM_001042492.3(NF1):c.5768C>G (p.Thr1923Arg) rs786203824
NM_001042492.3(NF1):c.654+4del rs1555608683
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.6968T>C (p.Leu2323Pro) rs1131691267
NM_001042492.3(NF1):c.7006G>C (p.Ala2336Pro) rs587781428
NM_001042492.3(NF1):c.7010T>G (p.Leu2337Arg) rs1555535179
NM_001042492.3(NF1):c.7157T>C (p.Phe2386Ser) rs1555535439
NM_001042492.3(NF1):c.7619C>A (p.Thr2540Lys) rs1555536633
NM_001042492.3(NF1):c.7870-13dup rs369360556
NM_001042492.3(NF1):c.7870-20A>G rs574898272
NM_001042492.3(NF1):c.7970+6T>G rs1555536775
NM_001042492.3(NF1):c.8222C>A (p.Thr2741Lys) rs144178015

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