ClinVar Miner

List of variants in gene REEP1 reported as uncertain significance by Athena Diagnostics Inc

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001371279.1(REEP1):c.*82G>A rs904027097 0.00015
NM_001371279.1(REEP1):c.408T>A (p.Ala136=) rs368965566 0.00002
NM_001371279.1(REEP1):c.521G>C (p.Gly174Ala) rs1279009965 0.00001
NM_001371279.1(REEP1):c.106-4A>G rs1677011138
NM_001371279.1(REEP1):c.116T>G (p.Met39Arg) rs1574052888
NM_001371279.1(REEP1):c.136G>A (p.Ala46Thr) rs1558898635
NM_001371279.1(REEP1):c.499C>T (p.Pro167Ser) rs896864468
NM_001371279.1(REEP1):c.786_787insAA (p.Pro263fs)

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