ClinVar Miner

List of variants in gene combination NEB, RIF1 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
NM_001164508.2(NEB):c.25395T>G (p.Ser8465=) rs13031275 0.03886
NM_001164508.2(NEB):c.21963A>G (p.Lys7321=) rs61730765 0.03096
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu) rs41270201 0.01730
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn) rs35625617 0.01691
NM_001164508.2(NEB):c.23511G>A (p.Thr7837=) rs35808744 0.01201
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile) rs34368668 0.01129
NM_001164508.2(NEB):c.21519C>T (p.Ser7173=) rs16830170 0.00961
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu) rs192402741 0.00334
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg) rs201714437 0.00035
NM_001164508.2(NEB):c.22647G>A (p.Glu7549=) rs201688876 0.00029
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys) rs202050860 0.00021
NM_001164508.2(NEB):c.22428C>T (p.Leu7476=) rs371431256 0.00005
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001164508.2(NEB):c.21546C>T (p.Asn7182=) rs149510427
NM_001164508.2(NEB):c.23649+10_23649+11del rs772001300
NM_001164508.2(NEB):c.23836-2A>G rs2153104173
NM_001164508.2(NEB):c.24996del (p.Gln8333fs) rs1553526884

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