ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001371279.1(REEP1):c.161del (p.Phe54fs)
NM_001371279.1(REEP1):c.450dup (p.Phe151fs) rs2104054109
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu) rs121918262

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