ClinVar Miner

List of variants reported as pathogenic for Neurofibromatosis, type 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 16
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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.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001042492.3(NF1):c.2342A>C (p.His781Pro) rs199474763
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala) rs2067142076
NM_001042492.3(NF1):c.3579T>A (p.Phe1193Leu)
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter) rs1131691072
NM_001042492.3(NF1):c.6686_6687insT (p.Trp2229fs) rs2151557502
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.731-5T>G rs1597659721
NM_001042492.3(NF1):c.789dup (p.Ala264fs)
NM_001042492.3(NF1):c.8135G>A (p.Trp2712Ter)

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