ClinVar Miner

List of variants in gene NF1 reported as uncertain significance by Medical Genetics,University of Parma

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Gene type:
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Total variants: 41
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HGVS dbSNP
NM_000267.3(NF1):c.1061A>G (p.Lys354Arg) rs1135402801
NM_000267.3(NF1):c.1460G>A (p.Arg487Lys) rs1135402809
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1477C>G (p.Leu493Val) rs1135402812
NM_000267.3(NF1):c.1585C>T (p.Leu529Phe) rs1135402816
NM_000267.3(NF1):c.1714_1721+5del rs1135402821
NM_000267.3(NF1):c.1889T>A (p.Val630Glu) rs1135402824
NM_000267.3(NF1):c.2764G>A (p.Gly922Ser) rs1135402831
NM_000267.3(NF1):c.2870A>T (p.Asn957Ile) rs1135402834
NM_000267.3(NF1):c.2886_2897del (p.Glu962_Ala966delinsAsp) rs1135402835
NM_000267.3(NF1):c.3104T>C (p.Met1035Thr) rs137854553
NM_000267.3(NF1):c.3113+2T>C rs876658997
NM_000267.3(NF1):c.3521A>G (p.Gln1174Arg) rs1135402843
NM_000267.3(NF1):c.3578T>C (p.Phe1193Ser) rs199474780
NM_000267.3(NF1):c.3632T>G (p.Leu1211Arg) rs1135402845
NM_000267.3(NF1):c.3651T>G (p.Asp1217Glu) rs1135402846
NM_000267.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_000267.3(NF1):c.4109A>C (p.Gln1370Pro) rs1135402853
NM_000267.3(NF1):c.4110G>C (p.Gln1370His) rs1135402854
NM_000267.3(NF1):c.4267A>C (p.Lys1423Gln) rs137854550
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.4269G>A (p.Lys1423=) rs199474750
NM_000267.3(NF1):c.4309G>A (p.Glu1437Lys) rs1135402858
NM_000267.3(NF1):c.4319T>C (p.Met1440Thr) rs754639587
NM_000267.3(NF1):c.4435A>G (p.Ser1479Gly) rs1135402862
NM_000267.3(NF1):c.4469T>G (p.Leu1490Arg) rs1135402864
NM_000267.3(NF1):c.4481A>G (p.Gln1494Arg) rs1135402865
NM_000267.3(NF1):c.4819T>C (p.Leu1607=) rs10512435
NM_000267.3(NF1):c.4866G>T (p.Val1622=) rs17880521
NM_000267.3(NF1):c.5322T>A (p.Asp1774Glu) rs1135402870
NM_000267.3(NF1):c.5413C>G (p.His1805Asp) rs1135402871
NM_000267.3(NF1):c.615G>A (p.Lys205=) rs1135402794
NM_000267.3(NF1):c.6361A>C (p.Ser2121Arg) rs1135402886
NM_000267.3(NF1):c.6756G>T (p.Lys2252Asn) rs1060500373
NM_000267.3(NF1):c.6915T>C (p.Asp2305=) rs1135402896
NM_000267.3(NF1):c.7118T>G (p.Leu2373Arg) rs1135402899
NM_000267.3(NF1):c.7126G>A (p.Gly2376Arg) rs1135402900
NM_000267.3(NF1):c.7521A>G (p.Gln2507=) rs55865524
NM_000267.3(NF1):c.8097+2T>G rs1135402909
NM_000267.3(NF1):c.8113G>A (p.Asp2705Asn) rs1135402910
NM_000267.3(NF1):c.886A>T (p.Lys296Ter) rs1135402798

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