ClinVar Miner

List of variants in gene NF1 reported as likely benign for Neurofibromatosis, familial spinal

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Gene type:
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Total variants: 23
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HGVS dbSNP
NM_000267.3(NF1):c.*125del rs397754615
NM_000267.3(NF1):c.*2215_*2219del rs201032889
NM_000267.3(NF1):c.*2566C>T rs545937364
NM_000267.3(NF1):c.*4T>C rs201044568
NM_000267.3(NF1):c.3468C>T (p.Asn1156=) rs147955381
NM_000267.3(NF1):c.354C>T (p.Cys118=) rs768777585
NM_000267.3(NF1):c.4788A>G (p.Gln1596=) rs150309802
NM_000267.3(NF1):c.5970A>G (p.Leu1990=) rs147995863
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_001042492.3(NF1):c.*541G>A
NM_001042492.3(NF1):c.*582T>G
NM_001042492.3(NF1):c.*584G>C
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751
NM_001042492.3(NF1):c.3975-12A>G
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=) rs140733963
NM_001042492.3(NF1):c.6643-13T>C
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150

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