ClinVar Miner

List of variants in gene REEP1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_001371279.1(REEP1):c.105+214A>G rs3821016 0.86745
NM_001371279.1(REEP1):c.33-23A>C rs1863059 0.53145
NM_001371279.1(REEP1):c.417+211T>G rs4832030 0.40645
NM_001371279.1(REEP1):c.417+45T>C rs12988844 0.40638
NM_001371279.1(REEP1):c.417+100A>G rs4832031 0.40626
NM_001371279.1(REEP1):c.304-94C>A rs17438687 0.40613
NM_001371279.1(REEP1):c.285G>A (p.Thr95=) rs2276625 0.39866
NM_001371279.1(REEP1):c.105+26C>T rs1863058 0.37197
NM_001371279.1(REEP1):c.106-81G>A rs1863056 0.35052
NM_001371279.1(REEP1):c.417+178C>T rs10189492 0.32863
NM_001371279.1(REEP1):c.*2859T>G rs708600 0.31997
NM_001371279.1(REEP1):c.*2824_*2827dup rs397794472 0.30658
NC_000002.12:g.86213962G>T rs2288122 0.30338
NC_000002.12:g.86338248A>G rs6547675 0.12809
NM_001371279.1(REEP1):c.32+112G>T rs145022978 0.08868
NM_001371279.1(REEP1):c.106-170C>A rs17027112 0.04133
NM_001371279.1(REEP1):c.105+78T>C rs6734431 0.03929
NM_001371279.1(REEP1):c.*1257C>T rs12328643 0.03924
NM_001371279.1(REEP1):c.*2825A>C rs7580424 0.03801
NM_001371279.1(REEP1):c.*630G>A rs60838463 0.03472
NM_022912.2(REEP1):c.-834A>G rs3827551 0.03360
NM_001371279.1(REEP1):c.32+140G>C rs187407143 0.03119
NM_001371279.1(REEP1):c.*2457G>C rs77055865 0.03118
NM_001371279.1(REEP1):c.105+191G>A rs3821015 0.02899
NM_001371279.1(REEP1):c.32+244G>T rs141214514 0.02827
NM_001371279.1(REEP1):c.33-136A>G rs6721458 0.02475
NM_001371279.1(REEP1):c.784-19T>G rs141722767 0.02274
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.182+143T>A rs115585392 0.01626
NM_001371279.1(REEP1):c.33-236A>G rs77014363 0.01623
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.381C>T (p.Asn127=) rs36008495 0.00419
NM_001371279.1(REEP1):c.486C>T (p.Asp162=) rs139806812 0.00403
NM_001371279.1(REEP1):c.784-285A>C rs3731815 0.00393
NM_001164730.2(REEP1):c.53+17G>T rs185618007 0.00222
NM_001371279.1(REEP1):c.-15G>A rs554619370 0.00148
NM_001371279.1(REEP1):c.784-16C>T rs182467924 0.00108
NM_001371279.1(REEP1):c.529C>T (p.Arg177Trp) rs144874997 0.00084
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.844G>A (p.Glu282Lys) rs189652973 0.00041
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
NM_001371279.1(REEP1):c.10T>G (p.Trp4Gly) rs863224189 0.00001
NM_001371279.1(REEP1):c.76G>A (p.Ala26Thr) rs1299952460 0.00001
GRCh37/hg19 2p11.2(chr2:86441169-86509452)x3
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.*2049dup rs200132323
NM_001371279.1(REEP1):c.-34_-33insAGCCG rs2104561817
NM_001371279.1(REEP1):c.-35_-34delinsTT rs1064795432
NM_001371279.1(REEP1):c.-44AGCCG[3] rs544099237
NM_001371279.1(REEP1):c.-50_-26dup rs1553472241
NM_001371279.1(REEP1):c.133T>G (p.Phe45Val) rs1387169886
NM_001371279.1(REEP1):c.182+16G>T rs760434437
NM_001371279.1(REEP1):c.182+45del rs143730116
NM_001371279.1(REEP1):c.182G>A (p.Trp61Ter) rs1558898568
NM_001371279.1(REEP1):c.203T>C (p.Leu68Pro) rs2104244891
NM_001371279.1(REEP1):c.264C>G (p.Tyr88Ter) rs879254031
NM_001371279.1(REEP1):c.310G>A (p.Asp104Asn)
NM_001371279.1(REEP1):c.32+14T>A rs1057522806
NM_001371279.1(REEP1):c.337C>T (p.Arg113Ter) rs121918263
NM_001371279.1(REEP1):c.345C>A (p.Tyr115Ter) rs138656911
NM_001371279.1(REEP1):c.475A>G (p.Ile159Val) rs1675100648
NM_001371279.1(REEP1):c.50_53dup (p.Pro19fs)
NM_001371279.1(REEP1):c.514C>T (p.Pro172Ser)
NM_001371279.1(REEP1):c.538_553del (p.Gly180fs) rs1064792986
NM_001371279.1(REEP1):c.56C>G (p.Pro19Arg) rs1060503496
NM_001371279.1(REEP1):c.58G>A (p.Ala20Thr) rs1266102026
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu) rs121918262
NM_001371279.1(REEP1):c.784-18_784-15del rs760605373
NM_001371279.1(REEP1):c.99G>C (p.Lys33Asn) rs2104394748

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