ClinVar Miner

List of variants in gene NF1 reported by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728 0.00001
NM_001042492.3(NF1):c.2010del (p.Ala671fs) rs1597712251
NM_001042492.3(NF1):c.2329T>G (p.Trp777Gly) rs876658853
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.3378_3381dup (p.Gly1128fs) rs1597719490
NM_001042492.3(NF1):c.3708+1G>A rs1420779915
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg) rs1135402865
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.5872del (p.Arg1958fs) rs2069603045
NM_001042492.3(NF1):c.7505del (p.Gly2502fs) rs1555536358

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