ClinVar Miner

List of variants in gene PEX7 reported as pathogenic for adult Refsum disease

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238 0.00010
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245 0.00004
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_000288.4(PEX7):c.130+1G>A rs267608253 0.00001
NM_000288.4(PEX7):c.188+1G>C rs267608254 0.00001
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154 0.00001
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248 0.00001
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter) rs764924345 0.00001
NM_000288.4(PEX7):c.804-2A>C rs774676095 0.00001
NM_000288.4(PEX7):c.854A>G (p.His285Arg) rs62653611 0.00001
NC_000006.11:g.(?_137143759)_(137143943_?)del
NC_000006.11:g.(?_137143759)_(137166840_?)del
NC_000006.11:g.(?_137143759)_(137167329_?)del
NC_000006.11:g.(?_137166743)_(137167329_?)del
NC_000006.11:g.(?_137167201)_(137234674_?)del
NC_000006.11:g.(?_137187755)_(137193401_?)del
NM_000288.4(PEX7):c.105_117del (p.Gln38fs)
NM_000288.4(PEX7):c.10del (p.Val4fs)
NM_000288.4(PEX7):c.111_112del (p.Gln38fs)
NM_000288.4(PEX7):c.112C>T (p.Gln38Ter) rs1774102216
NM_000288.4(PEX7):c.12del (p.Cys5fs)
NM_000288.4(PEX7):c.130+2T>G rs2115122957
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.188+1G>A rs267608254
NM_000288.4(PEX7):c.213del (p.Phe71fs) rs1190462422
NM_000288.4(PEX7):c.22_31del (p.Ala8fs)
NM_000288.4(PEX7):c.250dup (p.Ile84fs)
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.289_290del (p.Thr97fs)
NM_000288.4(PEX7):c.294_313dup (p.Gln105fs)
NM_000288.4(PEX7):c.31_56dup (p.Tyr20fs)
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter) rs62653604
NM_000288.4(PEX7):c.364del (p.Thr122fs) rs2115170460
NM_000288.4(PEX7):c.370_396del (p.Gly124_Ser132del)
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter) rs2115170536
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.45_52del (p.Gly16fs)
NM_000288.4(PEX7):c.45_52dup (p.His18fs) rs63535662
NM_000288.4(PEX7):c.474_477del (p.Tyr159fs) rs2115171634
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter) rs1173171051
NM_000288.4(PEX7):c.49_70dup (p.Phe24fs) rs1774099032
NM_000288.4(PEX7):c.508del (p.Cys170fs) rs1057516827
NM_000288.4(PEX7):c.517del (p.Ser173fs) rs2115171791
NM_000288.4(PEX7):c.523_526dup (p.Gly176fs)
NM_000288.4(PEX7):c.52dup (p.His18fs)
NM_000288.4(PEX7):c.546_547del (p.Ile182fs) rs2115216632
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)
NM_000288.4(PEX7):c.57_67dup (p.Glu23fs) rs2115122515
NM_000288.4(PEX7):c.652del (p.Ala218fs)
NM_000288.4(PEX7):c.683dup (p.Leu228fs)
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000288.4(PEX7):c.751dup (p.Ser251fs)
NM_000288.4(PEX7):c.818C>G (p.Ser273Ter)
NM_000288.4(PEX7):c.858_867del (p.Glu287fs)
NM_000288.4(PEX7):c.860_861del (p.Glu287fs) rs2115273041

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