ClinVar Miner

List of variants in gene NF1 reported as uncertain significance by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 0.00008
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531 0.00002
NM_001042492.3(NF1):c.7394A>G (p.Asp2465Gly) rs143474365 0.00001
NM_001042492.3(NF1):c.1814T>C (p.Ile605Thr) rs386833409
NM_001042492.3(NF1):c.3998A>G (p.Glu1333Gly) rs200618072
NM_001042492.3(NF1):c.6782A>G (p.His2261Arg) rs201336602

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