ClinVar Miner

List of variants reported as pathogenic for Peroxisome biogenesis disorder, complementation group 7

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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_002617.4(PEX10):c.704dup (p.Leu236fs) rs61750435 0.00008
NM_002617.4(PEX10):c.814_815del (p.Leu272fs) rs61752093 0.00006
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter) rs61752092 0.00003
NM_002617.4(PEX10):c.1A>G (p.Met1Val) rs886041314 0.00002
NM_002617.4(PEX10):c.600+1G>A rs267608183 0.00002
NM_002617.4(PEX10):c.211G>T (p.Glu71Ter) rs1291325133 0.00001
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter) rs61750434 0.00001
NC_000001.10:g.(?_2337195)_(2340307_?)del
NC_000001.10:g.(?_2339881)_(2340307_?)del
NC_000001.10:g.(?_2341800)_(2343951_?)del
NC_000001.10:g.(?_861322)_(3768971_?)del
NC_000001.11:g.(?_2405746)_(2412522_?)del
NC_000001.11:g.(?_2405756)_(2412512_?)del
NM_002617.4(PEX10):c.120del (p.Lys41fs)
NM_002617.4(PEX10):c.134G>A (p.Trp45Ter)
NM_002617.4(PEX10):c.157_158del (p.Ser53fs) rs1384671249
NM_002617.4(PEX10):c.198C>G (p.Tyr66Ter)
NM_002617.4(PEX10):c.1A>C (p.Met1Leu)
NM_002617.4(PEX10):c.1A>T (p.Met1Leu) rs886041314
NM_002617.4(PEX10):c.211del (p.Glu71fs)
NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter) rs531987102
NM_002617.4(PEX10):c.247del (p.Arg83fs)
NM_002617.4(PEX10):c.26del (p.Pro9fs) rs1553232917
NM_002617.4(PEX10):c.26dup (p.Glu10fs) rs1553232917
NM_002617.4(PEX10):c.28dup (p.Glu10fs) rs1643275394
NM_002617.4(PEX10):c.291_292insTGCTGGTGACG (p.Leu98delinsCysTrpTer) rs1643093232
NM_002617.4(PEX10):c.295del (p.His99fs) rs1557910651
NM_002617.4(PEX10):c.2T>C (p.Met1Thr) rs724160002
NM_002617.4(PEX10):c.338del (p.Leu113fs) rs878853044
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter) rs369965266
NM_002617.4(PEX10):c.363del (p.Asp122fs)
NM_002617.4(PEX10):c.387del (p.Ser130fs) rs2100429148
NM_002617.4(PEX10):c.3G>A (p.Met1Ile)
NM_002617.4(PEX10):c.401_416dup (p.Gly140fs) rs2100429011
NM_002617.4(PEX10):c.408_423dup (p.Arg142fs)
NM_002617.4(PEX10):c.417_418del (p.Arg142fs)
NM_002617.4(PEX10):c.430_439del (p.Trp144fs) rs2100428812
NM_002617.4(PEX10):c.450del (p.Thr151fs)
NM_002617.4(PEX10):c.458_461del (p.Thr153fs)
NM_002617.4(PEX10):c.475del (p.Ala159fs) rs2100428583
NM_002617.4(PEX10):c.486_496del (p.Ala163fs) rs2100428385
NM_002617.4(PEX10):c.496del (p.Val166fs) rs770937339
NM_002617.4(PEX10):c.4del (p.Ala2fs) rs62636524
NM_002617.4(PEX10):c.504_507del (p.Gln169fs) rs2100428321
NM_002617.4(PEX10):c.506_507del (p.Gln169fs) rs1643083325
NM_002617.4(PEX10):c.509del (p.Gly170fs)
NM_002617.4(PEX10):c.542G>A (p.Trp181Ter)
NM_002617.4(PEX10):c.551_555del (p.Ile184fs)
NM_002617.4(PEX10):c.551del (p.Ile184fs) rs1557910202
NM_002617.4(PEX10):c.601-14del rs1643028060
NM_002617.4(PEX10):c.601-38_601-37del rs1553231896
NM_002617.4(PEX10):c.601-39del
NM_002617.4(PEX10):c.601-3C>T rs369643163
NM_002617.4(PEX10):c.601-3_601-2del rs1643027426
NM_002617.4(PEX10):c.601-4dup rs2100423250
NM_002617.4(PEX10):c.622G>T (p.Gly208Ter)
NM_002617.4(PEX10):c.640del (p.Arg214fs)
NM_002617.4(PEX10):c.664del (p.Val222fs)
NM_002617.4(PEX10):c.664dup (p.Val222fs) rs1357189926
NM_002617.4(PEX10):c.692_703del (p.Ser231_Gln235delinsTer) rs768893724
NM_002617.4(PEX10):c.703C>T (p.Gln235Ter) rs1295555837
NM_002617.4(PEX10):c.708_709dup (p.Tyr237fs)
NM_002617.4(PEX10):c.727C>T (p.Gln243Ter) rs2100422652
NM_002617.4(PEX10):c.735_738del (p.Lys247fs)
NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)
NM_002617.4(PEX10):c.747G>A (p.Trp249Ter) rs2100422532
NM_002617.4(PEX10):c.755_756del (p.His252fs) rs1325771720
NM_002617.4(PEX10):c.761del (p.Gly254fs) rs1553231820
NM_002617.4(PEX10):c.795_796del (p.Arg265fs) rs1553231787
NM_002617.4(PEX10):c.820_828del (p.Thr274_Cys276del)
NM_002617.4(PEX10):c.832dup (p.Glu278fs)
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter) rs62641225
NM_002617.4(PEX10):c.858_870del (p.Pro287fs)
NM_002617.4(PEX10):c.868dup (p.His290fs)
NM_002617.4(PEX10):c.887del (p.Cys296fs)
NM_002617.4(PEX10):c.899G>A (p.Trp300Ter)
NM_002617.4(PEX10):c.8del (p.Pro3fs)
NM_002617.4(PEX10):c.903del (p.Trp300_Cys301insTer)
NM_002617.4(PEX10):c.907_908insCTTA (p.Ser303delinsThrTer)
NM_002617.4(PEX10):c.912+1G>C rs1553231739

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