ClinVar Miner

List of variants in gene PEX10 reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln) rs724160001 0.00003
NM_002617.4(PEX10):c.113-1G>A rs867305222 0.00002
NM_002617.4(PEX10):c.1A>G (p.Met1Val) rs886041314 0.00002
NM_002617.4(PEX10):c.868C>G (p.His290Asp) rs61752094 0.00002
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter) rs61750434 0.00001
NM_002617.4(PEX10):c.776+2T>C rs1335685844 0.00001
NM_002617.4(PEX10):c.827G>T (p.Cys276Phe) rs1414973726 0.00001
NM_002617.4(PEX10):c.913-2A>C rs758250423 0.00001
NC_000001.10:g.(?_2337205)_(2338414_?)del
NM_002617.4(PEX10):c.113-1G>C
NM_002617.4(PEX10):c.125G>A (p.Trp42Ter)
NM_002617.4(PEX10):c.135G>A (p.Trp45Ter)
NM_002617.4(PEX10):c.13_28delinsCCGCCAGCACCTGCGCCGCC (p.Ala5fs)
NM_002617.4(PEX10):c.142dup (p.Glu48fs)
NM_002617.4(PEX10):c.157_158del (p.Ser53fs) rs1384671249
NM_002617.4(PEX10):c.200A>G (p.Gln67Arg)
NM_002617.4(PEX10):c.20del (p.Ser7fs) rs1553232926
NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter) rs531987102
NM_002617.4(PEX10):c.222_223del (p.Ser75fs)
NM_002617.4(PEX10):c.247_251del (p.Arg83fs)
NM_002617.4(PEX10):c.26del (p.Pro9fs) rs1553232917
NM_002617.4(PEX10):c.295del (p.His99fs) rs1557910651
NM_002617.4(PEX10):c.335_338del (p.Pro112fs) rs2100429450
NM_002617.4(PEX10):c.338del (p.Leu113fs) rs878853044
NM_002617.4(PEX10):c.346_363delinsTGGGCCCCTG (p.Glu116fs)
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter) rs369965266
NM_002617.4(PEX10):c.401_416dup (p.Gly140fs) rs2100429011
NM_002617.4(PEX10):c.408_423dup (p.Arg142fs)
NM_002617.4(PEX10):c.424_425dup (p.Arg143fs)
NM_002617.4(PEX10):c.445_452del (p.Thr149fs)
NM_002617.4(PEX10):c.4del (p.Ala2fs) rs62636524
NM_002617.4(PEX10):c.522_523del (p.Gln175fs)
NM_002617.4(PEX10):c.542G>A (p.Trp181Ter)
NM_002617.4(PEX10):c.551del (p.Ile184fs) rs1557910202
NM_002617.4(PEX10):c.587del (p.Thr196fs)
NM_002617.4(PEX10):c.592del (p.Ile198fs)
NM_002617.4(PEX10):c.600+1del rs1553232077
NM_002617.4(PEX10):c.600C>G (p.Tyr200Ter)
NM_002617.4(PEX10):c.601-18dup
NM_002617.4(PEX10):c.601-24_601-23del rs1553231875
NM_002617.4(PEX10):c.601-26_601-25delinsCTC rs1553231888
NM_002617.4(PEX10):c.601-38_601-37del rs1553231896
NM_002617.4(PEX10):c.601-61G>A
NM_002617.4(PEX10):c.618del (p.Gly208fs)
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.746G>A (p.Trp249Ter)
NM_002617.4(PEX10):c.755_756del (p.His252fs) rs1325771720
NM_002617.4(PEX10):c.761del (p.Gly254fs) rs1553231820
NM_002617.4(PEX10):c.773_776+17del
NM_002617.4(PEX10):c.776+1G>A
NM_002617.4(PEX10):c.776+1G>C rs869312935
NM_002617.4(PEX10):c.776+2T>A rs1335685844
NM_002617.4(PEX10):c.777-1G>A
NM_002617.4(PEX10):c.790G>T (p.Glu264Ter) rs769251149
NM_002617.4(PEX10):c.795_796del (p.Arg265fs) rs1553231787
NM_002617.4(PEX10):c.813_814del (p.Leu272fs)
NM_002617.4(PEX10):c.815del (p.Leu272fs) rs1553231783
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro) rs724160000
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter) rs62641225
NM_002617.4(PEX10):c.844_848del (p.His282fs)
NM_002617.4(PEX10):c.868dup (p.His290fs)
NM_002617.4(PEX10):c.8del (p.Pro3fs)
NM_002617.4(PEX10):c.912+1G>A rs1553231739
NM_002617.4(PEX10):c.912+1G>C rs1553231739
NM_002617.4(PEX10):c.916del (p.Glu306fs) rs2100419143

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