ClinVar Miner

List of variants in gene NF1 reported as benign by Athena Diagnostics Inc

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.2034G>A (p.Pro678=) rs2285892 0.42930
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=) rs10512435 0.02270
NM_001042492.3(NF1):c.2851-16T>C rs17880825 0.01543
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001042492.3(NF1):c.655-29T>C rs182325576 0.00240
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_001042492.3(NF1):c.655-22A>C rs372215771 0.00047
NM_001042492.3(NF1):c.7190-33TTGT[3] rs149197458
NM_001042492.3(NF1):c.7321+19_7321+22del rs528866152

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