ClinVar Miner

List of variants in gene REP15 studied for not specified

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001029874.3(REP15):c.168T>A (p.Asn56Lys) rs975255451 0.00005
NM_001029874.3(REP15):c.661A>G (p.Lys221Glu) rs778864253 0.00003
NM_001029874.3(REP15):c.482G>A (p.Gly161Asp) rs755575900 0.00002
NM_001029874.3(REP15):c.670G>A (p.Gly224Arg) rs559364694 0.00002
NM_001029874.3(REP15):c.189C>A (p.Phe63Leu) rs1328996110 0.00001
NM_001029874.3(REP15):c.506C>T (p.Pro169Leu) rs747247599 0.00001
NM_001029874.3(REP15):c.550A>G (p.Lys184Glu) rs768685423 0.00001
NM_001029874.3(REP15):c.261C>G (p.Phe87Leu) rs181079535
NM_001029874.3(REP15):c.304A>C (p.Lys102Gln) rs2545629582
NM_001029874.3(REP15):c.362T>C (p.Val121Ala) rs2545629720
NM_001029874.3(REP15):c.505C>T (p.Pro169Ser)
NM_001029874.3(REP15):c.521A>G (p.Asp174Gly)
NM_001029874.3(REP15):c.539T>G (p.Leu180Arg) rs2061737263
NM_001029874.3(REP15):c.623G>C (p.Cys208Ser)
NM_001029874.3(REP15):c.624T>G (p.Cys208Trp) rs1418115529
NM_001029874.3(REP15):c.83T>C (p.Ile28Thr)

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