ClinVar Miner

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

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Gene type:
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Total variants: 31
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HGVS dbSNP
NM_000267.3(NF1):c.107C>G (p.Thr36Ser) rs199966218
NM_000267.3(NF1):c.1144del (p.Ser382fs) rs1135402802
NM_000267.3(NF1):c.1392+1G>A rs267604791
NM_000267.3(NF1):c.1527+1G>C rs1060500331
NM_000267.3(NF1):c.1641+2del rs1135402818
NM_000267.3(NF1):c.1845+1_1845+5del rs1135402822
NM_000267.3(NF1):c.2392A>C (p.Lys798Gln) rs1135402830
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.2990+1G>A rs1135402836
NM_000267.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_000267.3(NF1):c.4340T>G (p.Val1447Gly) rs1135402860
NM_000267.3(NF1):c.4773-1G>A rs1057518326
NM_000267.3(NF1):c.5206-1G>C rs876660141
NM_000267.3(NF1):c.541_542del (p.Gln181fs) rs1135402790
NM_000267.3(NF1):c.5508del (p.Ile1836fs) rs1135402874
NM_000267.3(NF1):c.5547-2A>T rs1135402876
NM_000267.3(NF1):c.5717del (p.Leu1906fs) rs1135402880
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.586+2T>C rs1135402791
NM_000267.3(NF1):c.6084G>C (p.Lys2028Asn) rs1135402882
NM_000267.3(NF1):c.6365-2A>C rs1060500312
NM_000267.3(NF1):c.6537del (p.Ser2180fs) rs1135402892
NM_000267.3(NF1):c.6747del (p.Ser2251fs) rs1135402893
NM_000267.3(NF1):c.6756+2T>C rs1135402894
NM_000267.3(NF1):c.6858+1G>A rs1060500355
NM_000267.3(NF1):c.6999+2T>C rs1135402898
NM_000267.3(NF1):c.7258+1G>T rs1135402903
NM_000267.3(NF1):c.7775dup (p.Lys2593fs) rs1131691129
NM_000267.3(NF1):c.862del (p.Val288fs) rs1135402797
NM_000267.3(NF1):c.888+1G>C rs1135402799
NM_000267.3(NF1):c.889-1G>A rs587781517

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