ClinVar Miner

List of variants studied for Neurofibromatosis, type 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.204+1G>A rs886039548
NM_001042492.3(NF1):c.3708+2dup
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs) rs1064794276
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3986C>G (p.Ser1329Ter) rs1060500319
NM_001042492.3(NF1):c.4013del (p.Asn1338fs)
NM_001042492.3(NF1):c.4256T>A (p.Val1419Asp) rs1555618528
NM_001042492.3(NF1):c.4977_4980del (p.Lys1661fs) rs1085307459
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter) rs1555533555
NM_001042492.3(NF1):c.5610-2A>G rs1135402876
NM_001042492.3(NF1):c.5687C>G (p.Ser1896Ter) rs1135402879
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg) rs199474791
NM_001042492.3(NF1):c.6296dup (p.His2099fs)
NM_001042492.3(NF1):c.6705-1G>T rs1060500356
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.3(NF1):c.897del (p.Leu300fs)

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