ClinVar Miner

List of variants in gene NF1 reported as likely benign by Medical Genetics, University of Parma

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.655-37A>C rs375655707 0.00014
NM_001042492.3(NF1):c.3974+141T>C rs779226804 0.00013
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His) rs546073780 0.00006
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001042492.3(NF1):c.584A>G (p.Lys195Arg) rs587778552 0.00001
NM_001042492.3(NF1):c.7647A>G (p.Ser2549=) rs750342324 0.00001
NM_001042492.3(NF1):c.1889T>A (p.Val630Glu) rs1135402824
NM_001042492.3(NF1):c.2322T>C (p.Thr774=) rs770111990
NM_001042492.3(NF1):c.4174-8_4174-6del rs751729752
NM_001042492.3(NF1):c.7041T>C (p.Ser2347=) rs746322836
NM_001042492.3(NF1):c.7416T>C (p.Pro2472=) rs876659624
NM_001042492.3(NF1):c.7931C>A (p.Ala2644Glu) rs766494934

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