List of variants in gene NF1 reported as likely benign for Neurofibromatosis-Noonan syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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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.5235G>A (p.Lys1745=)	rs17887014	0.00305
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)	rs147327414	0.00195
NM_001042492.3(NF1):c.846G>A (p.Gln282=)	rs138840528	0.00149
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)	rs144091165	0.00019
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=)	rs371581213	0.00013
NM_001042492.3(NF1):c.4724+11A>G	rs368649260	0.00009
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)	rs368654378	0.00009
NM_001042492.3(NF1):c.7870-8C>A	rs372441422	0.00006
NM_001042492.3(NF1):c.1166A>G (p.His389Arg)	rs149739570	0.00005
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)	rs143836226	0.00004
NM_001042492.3(NF1):c.*4T>C	rs201044568	0.00003
NM_001042492.3(NF1):c.1308G>A (p.Ser436=)	rs765425127	0.00003
NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr)	rs772543826	0.00001
NM_001042492.3(NF1):c.6006+4T>C	rs754909198	0.00001
NM_001042492.3(NF1):c.681T>C (p.Tyr227=)	rs745804540	0.00001
NM_001042492.3(NF1):c.*125del	rs397754615
NM_001042492.3(NF1):c.2215_2219del	rs201032889
NM_001042492.3(NF1):c.61-4del	rs551568608

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