ClinVar Miner

List of variants in gene NF1 reported by Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1250_1251insTT (p.Ile418fs) rs2143886864
NM_001042492.3(NF1):c.2850+1G>T rs1131691122
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3639_3640del (p.Met1214fs) rs2151435662
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) rs199474743
NM_001042492.3(NF1):c.625C>T (p.Gln209Ter) rs786203448
NM_001042492.3(NF1):c.889A>T (p.Lys297Ter) rs786202384

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