ClinVar Miner

List of variants in gene LOC111811965, MIR4733HG, NF1 studied for hematologic disorder

Included ClinVar conditions (819):
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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.-148C>A rs886052792 0.00001
NM_001042492.3(NF1):c.60+11C>T rs565515877 0.00001
NM_001042492.3(NF1):c.15G>T (p.Arg5Ser) rs1567786804
NM_001042492.3(NF1):c.17C>T (p.Pro6Leu) rs864622210
NM_001042492.3(NF1):c.46C>G (p.Arg16Gly)
NM_001042492.3(NF1):c.4_5delinsTT (p.Ala2Phe) rs1555594471
NM_001042492.3(NF1):c.55G>T (p.Glu19Ter) rs786203307

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