ClinVar Miner

List of variants in gene NF1 reported as uncertain significance by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 0.00009
NM_001042492.3(NF1):c.1156A>G (p.Ile386Val) rs779930387 0.00001
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg) rs140653372 0.00001
NM_001042492.3(NF1):c.584A>G (p.Lys195Arg) rs587778552 0.00001
NM_001042492.3(NF1):c.2618G>C (p.Arg873Pro) rs949092641
NM_001042492.3(NF1):c.3496+53T>C rs1555614994
NM_001042492.3(NF1):c.3958G>A (p.Glu1320Lys) rs1273280025
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly) rs587781755
NM_001042492.3(NF1):c.479+5G>T rs1567818033
NM_001042492.3(NF1):c.6109G>A (p.Ala2037Thr) rs1555534612
NM_001042492.3(NF1):c.7310C>A (p.Ala2437Asp) rs2070078591

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