ClinVar Miner

List of variants in gene NF1 reported as pathogenic for not specified

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Total variants: 29
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HGVS dbSNP
NM_000267.3(NF1):c.1009G>T (p.Glu337Ter) rs747241884
NM_000267.3(NF1):c.1094C>G (p.Ser365Ter) rs864622107
NM_000267.3(NF1):c.1178del (p.His393fs) rs1555611037
NM_000267.3(NF1):c.1185+2T>G rs1555611043
NM_000267.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_000267.3(NF1):c.2077_2078del (p.Met693fs) rs1555613795
NM_000267.3(NF1):c.2331G>A (p.Trp777Ter) rs1555613983
NM_000267.3(NF1):c.3076A>T (p.Arg1026Ter) rs1555614529
NM_000267.3(NF1):c.334C>T (p.Gln112Ter) rs1555606061
NM_000267.3(NF1):c.3537del (p.Phe1179fs) rs1555615026
NM_000267.3(NF1):c.3757_3797del (p.Leu1253fs) rs1555615447
NM_000267.3(NF1):c.3790G>T (p.Glu1264Ter) rs863224660
NM_000267.3(NF1):c.4132C>T (p.Gln1378Ter) rs1131691072
NM_000267.3(NF1):c.4514+1G>A rs1279529138
NM_000267.3(NF1):c.4829T>G (p.Leu1610Ter) rs1555533292
NM_000267.3(NF1):c.5270_5271del (p.Phe1757fs) rs1555533566
NM_000267.3(NF1):c.551del (p.Asn184fs) rs1555607102
NM_000267.3(NF1):c.5702_5703del (p.Leu1901fs) rs1555533880
NM_000267.3(NF1):c.5717del (p.Leu1906fs) rs1135402880
NM_000267.3(NF1):c.6310_6313del (p.Leu2104fs) rs1555534755
NM_000267.3(NF1):c.654+1G>A rs1060500245
NM_000267.3(NF1):c.662G>A (p.Trp221Ter) rs1131691126
NM_000267.3(NF1):c.7054C>T (p.Gln2352Ter) rs1555535417
NM_000267.3(NF1):c.7225G>T (p.Glu2409Ter) rs1555536035
NM_000267.3(NF1):c.731-1_731del rs1555608925
NM_000267.3(NF1):c.7411C>T (p.Gln2471Ter) rs1555536340
NM_000267.3(NF1):c.7486C>T (p.Arg2496Ter) rs866445127
NM_000267.3(NF1):c.7907+1G>A rs1555536773
NM_000267.3(NF1):c.910C>T (p.Arg304Ter) rs786203950

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