ClinVar Miner

List of variants in gene REEP1 reported as uncertain significance by Genome Diagnostics Laboratory, The Hospital for Sick Children

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001371279.1(REEP1):c.*94T>C rs141976852 0.02270
NM_001371279.1(REEP1):c.182+5G>T rs766166355
NM_001371279.1(REEP1):c.193T>C (p.Tyr65His) rs2104245077
NM_001371279.1(REEP1):c.194A>G (p.Tyr65Cys) rs1553461508
NM_001371279.1(REEP1):c.477C>T (p.Ile159=) rs2104053665
NM_001371279.1(REEP1):c.58G>A (p.Ala20Thr) rs1266102026

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