ClinVar Miner

List of variants in gene combination NEB, RIF1 reported by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter) rs754272530 0.00003
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter) rs748922882 0.00001
NM_001164508.2(NEB):c.24115-151C>A rs1575076895
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs) rs1553552384
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136

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