ClinVar Miner

List of variants in gene combination NF1, OMG studied for not provided

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002544.5(OMG):c.1304T>C (p.Val435Ala) rs16972169 0.00849
NM_002544.5(OMG):c.1110A>C (p.Ser370=) rs145223469 0.00311
NM_001042492.3(NF1):c.4835+29771T>C rs143996004 0.00036
NM_002544.5(OMG):c.1233A>G (p.Val411=) rs1199643348 0.00003
NM_002544.5(OMG):c.1266G>C (p.Trp422Cys)

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