ClinVar Miner

List of variants in gene REEP1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001371279.1(REEP1):c.486C>T (p.Asp162=) rs139806812 0.00425
NM_001371279.1(REEP1):c.231G>A (p.Leu77=) rs139808535 0.00070
NM_001371279.1(REEP1):c.837G>T (p.Ser279=) rs377637314 0.00068
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.843C>T (p.Thr281=) rs201177149 0.00015
NM_001371279.1(REEP1):c.*4A>G rs772580203 0.00008
NM_001371279.1(REEP1):c.396G>A (p.Ala132=) rs377712421 0.00007
NM_001371279.1(REEP1):c.106-7T>A rs373564876 0.00006
NM_001371279.1(REEP1):c.806C>T (p.Ser269Phe) rs200537429 0.00003
NM_001371279.1(REEP1):c.408T>A (p.Ala136=) rs368965566 0.00002
NM_001371279.1(REEP1):c.853T>G (p.Ter285Gly) rs778184639 0.00002
NM_001371279.1(REEP1):c.57T>C (p.Pro19=) rs943579285 0.00001
NM_001164730.2(REEP1):c.11T>C (p.Val4Ala)
NM_001371279.1(REEP1):c.*2007_*2015del
NM_001371279.1(REEP1):c.*2012_*2015dup
NM_001371279.1(REEP1):c.105+1G>A rs1064797257
NM_001371279.1(REEP1):c.154G>A (p.Glu52Lys) rs2104303049
NM_001371279.1(REEP1):c.175del (p.Leu59fs) rs1677003855
NM_001371279.1(REEP1):c.269A>G (p.Lys90Arg)
NM_001371279.1(REEP1):c.275T>A (p.Val92Glu)
NM_001371279.1(REEP1):c.304-2A>C
NM_001371279.1(REEP1):c.340_347del (p.Ser114fs) rs1676310949
NM_001371279.1(REEP1):c.418-7222del
NM_001371279.1(REEP1):c.429_430dup (p.Leu144fs)
NM_001371279.1(REEP1):c.478del (p.Arg160fs) rs1675100502
NM_001371279.1(REEP1):c.537C>A (p.Ser179Arg) rs201564869
NM_001371279.1(REEP1):c.545_546delinsTA (p.His182Leu) rs2104051836
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu) rs121918262

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