ClinVar Miner

List of variants in gene REEP1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001371279.1(REEP1):c.*630G>A rs60838463 0.03472
NM_001371279.1(REEP1):c.*1415G>T rs116705276 0.02145
NM_001371279.1(REEP1):c.*2513G>A rs115098584 0.02140
NM_001371279.1(REEP1):c.*954G>A rs17510310 0.01856
NM_001371279.1(REEP1):c.595+155C>T rs114624321 0.01509
NM_001371279.1(REEP1):c.595+62C>T rs151059099 0.01496
NM_001371279.1(REEP1):c.*2995T>C rs17438464 0.01493
NM_001371279.1(REEP1):c.*737T>C rs150465452 0.01271
NM_001371279.1(REEP1):c.*2131G>A rs58401741 0.01166
NM_001371279.1(REEP1):c.*965G>A rs76860896 0.01007
NM_001371279.1(REEP1):c.32+198G>A rs567383297 0.00931
NM_001371279.1(REEP1):c.182+221C>T rs116446587 0.00521
NM_001164730.2(REEP1):c.53+328C>G rs573256758 0.00469
NM_001371279.1(REEP1):c.784-285A>C rs3731815 0.00393
NM_001371279.1(REEP1):c.837G>T (p.Ser279=) rs377637314 0.00068
NM_001371279.1(REEP1):c.32+19C>G rs536482080 0.00050
NM_001371279.1(REEP1):c.483A>G (p.Gly161=) rs373854674 0.00015
NM_001371279.1(REEP1):c.518C>T (p.Pro173Leu) rs777245164 0.00013
NM_001371279.1(REEP1):c.363C>T (p.Phe121=) rs369674332 0.00007
NM_001371279.1(REEP1):c.396G>A (p.Ala132=) rs377712421 0.00007
NM_001371279.1(REEP1):c.270G>A (p.Lys90=) rs141929755 0.00004
NM_001371279.1(REEP1):c.408T>A (p.Ala136=) rs368965566 0.00003
NM_001371279.1(REEP1):c.418-13G>A rs548141046 0.00003
NM_001371279.1(REEP1):c.156G>A (p.Glu52=) rs750019085 0.00002
NC_000002.12:g.86338295TCT[1] rs3840983
NM_001164730.2(REEP1):c.53+323GCC[8] rs545000846
NM_001371279.1(REEP1):c.*165del rs59345004
NM_001371279.1(REEP1):c.*2049del rs200132323
NM_001371279.1(REEP1):c.-35_-34delinsTT rs1064795432
NM_001371279.1(REEP1):c.182+16G>T rs760434437
NM_001371279.1(REEP1):c.32+14T>A rs1057522806
NM_001371279.1(REEP1):c.784-18_784-15del rs760605373

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