ClinVar Miner

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

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Gene type:
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Total variants: 14
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NM_000267.3(NF1):c.1721+3A>G rs1057518904
NM_000267.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.2709G>A (p.Val903=) rs771820789
NM_000267.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.4812C>G (p.Tyr1604Ter) rs1555533285
NM_000267.3(NF1):c.4935del (p.Pro1646fs) rs1135402867
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.6579+1G>A rs1060500345
NM_000267.3(NF1):c.6641+2del rs1555534929
NM_000267.3(NF1):c.6841C>T (p.Gln2281Ter) rs1057518807
NM_000267.3(NF1):c.7285C>T (p.Arg2429Ter) rs786202457

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