ClinVar Miner

List of variants reported for Neurofibromatosis, type 1 by GeneReviews

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.5488C>A (p.Arg1830Ser) rs797045139
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly) rs797045139
NM_001042492.3(NF1):c.5489G>C (p.Arg1830Pro) rs771529172
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172

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