ClinVar Miner

List of variants in gene combination NEB, RIF1 reported as uncertain significance for not specified

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu) rs373946758 0.00035
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg) rs201714437 0.00035
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp) rs201189784 0.00022
NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu) rs199957886 0.00018
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00006
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001164508.2(NEB):c.23710C>T (p.Arg7904Cys) rs758166991 0.00004
NM_001164508.2(NEB):c.24557G>A (p.Arg8186His) rs759962661 0.00002
NM_001164508.2(NEB):c.24556C>T (p.Arg8186Cys) rs765313781 0.00001
NM_001164508.2(NEB):c.21419T>A (p.Ile7140Asn)
NM_001164508.2(NEB):c.21533A>G (p.Lys7178Arg) rs1279019316
NM_001164508.2(NEB):c.22114A>T (p.Thr7372Ser) rs750642580
NM_001164508.2(NEB):c.22479+5T>A
NM_001164508.2(NEB):c.23557G>A (p.Val7853Ile) rs878854397
NM_001164508.2(NEB):c.23649+10_23649+11del rs772001300
NM_001164508.2(NEB):c.23798T>C (p.Ile7933Thr) rs140967744
NM_001164508.2(NEB):c.24067A>G (p.Thr8023Ala) rs1323764871
NM_001164508.2(NEB):c.24113C>T (p.Ser8038Leu) rs1458048713
NM_001164508.2(NEB):c.24114G>A (p.Ser8038=) rs781581005

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