ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP
NM_000267.3(NF1):c.1814T>C (p.Ile605Thr) rs386833409
NM_000267.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753
NM_000267.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954
NM_000267.3(NF1):c.3998A>G (p.Glu1333Gly) rs200618072
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.6719A>G (p.His2240Arg) rs201336602
NM_000267.3(NF1):c.6866C>T (p.Pro2289Leu) rs148736217
NM_000267.3(NF1):c.730+2T>G rs200962248
NM_000267.3(NF1):c.7331A>G (p.Asp2444Gly) rs143474365
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe) rs201824349
NM_000267.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531

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