ClinVar Miner

List of variants in gene NF1 reported by Pediatrics Genetics, Post Graduate Institute of Medical Education and Research

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.430dup (p.Ser144fs) rs869196514
NM_001042492.3(NF1):c.4836-2A>G rs1555533265
NM_001042492.3(NF1):c.5059_5060del (p.Arg1687fs) rs2508696599
NM_001042492.3(NF1):c.6354del (p.Arg2119fs) rs2151554936
NM_001042492.3(NF1):c.7744C>T (p.Gln2582Ter) rs587781651

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