ClinVar Miner

List of variants in gene NF1 studied for Neurofibromatosis, familial spinal; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr)	rs200572531	0.00002
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys)	rs369493270	0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)	rs797045139	0.00001

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