ClinVar Miner

List of variants reported as likely benign for Peroxisome biogenesis disorder 9B by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 86
Download table as spreadsheet
HGVS dbSNP
NM_000288.4(PEX7):c.111G>A (p.Ala37=)
NM_000288.4(PEX7):c.117C>T (p.His39=)
NM_000288.4(PEX7):c.126C>T (p.Ile42=) rs1464741803
NM_000288.4(PEX7):c.130+10C>A rs794726882
NM_000288.4(PEX7):c.130+8G>C
NM_000288.4(PEX7):c.130+9G>A
NM_000288.4(PEX7):c.130+9G>C
NM_000288.4(PEX7):c.131-10T>C
NM_000288.4(PEX7):c.131-6C>G
NM_000288.4(PEX7):c.131-8C>G
NM_000288.4(PEX7):c.159A>G (p.Pro53=)
NM_000288.4(PEX7):c.171G>C (p.Gly57=) rs750791932
NM_000288.4(PEX7):c.216T>C (p.Asp72=) rs1582732837
NM_000288.4(PEX7):c.234C>A (p.Asn78Lys)
NM_000288.4(PEX7):c.237C>T (p.Asn79=)
NM_000288.4(PEX7):c.240A>G (p.Glu80=)
NM_000288.4(PEX7):c.243T>C (p.His81=)
NM_000288.4(PEX7):c.258T>C (p.Cys86=)
NM_000288.4(PEX7):c.273G>A (p.Ser91=)
NM_000288.4(PEX7):c.27G>A (p.Ala9=)
NM_000288.4(PEX7):c.297A>G (p.Lys99=)
NM_000288.4(PEX7):c.300T>C (p.Ala100=)
NM_000288.4(PEX7):c.310C>T (p.Leu104=)
NM_000288.4(PEX7):c.315A>G (p.Gln105=) rs767901695
NM_000288.4(PEX7):c.315A>T (p.Gln105His)
NM_000288.4(PEX7):c.330C>T (p.His110=) rs199648976
NM_000288.4(PEX7):c.339+10A>C rs374668045
NM_000288.4(PEX7):c.340-8G>A rs528317074
NM_000288.4(PEX7):c.34C>T (p.Leu12=)
NM_000288.4(PEX7):c.408T>C (p.Thr136=)
NM_000288.4(PEX7):c.417+8A>G
NM_000288.4(PEX7):c.417+9G>A rs766476163
NM_000288.4(PEX7):c.418-10T>C
NM_000288.4(PEX7):c.418-4G>A rs199552223
NM_000288.4(PEX7):c.42G>A (p.Thr14=)
NM_000288.4(PEX7):c.447C>T (p.Cys149=)
NM_000288.4(PEX7):c.450C>T (p.Thr150=)
NM_000288.4(PEX7):c.462T>C (p.His154=)
NM_000288.4(PEX7):c.465A>G (p.Glu155=) rs1582745048
NM_000288.4(PEX7):c.480C>T (p.Ser160=)
NM_000288.4(PEX7):c.504T>C (p.Pro168=)
NM_000288.4(PEX7):c.516T>C (p.Ala172=)
NM_000288.4(PEX7):c.516T>G (p.Ala172=)
NM_000288.4(PEX7):c.519A>T (p.Ser173=)
NM_000288.4(PEX7):c.526+19A>G
NM_000288.4(PEX7):c.527-5A>G
NM_000288.4(PEX7):c.561A>G (p.Ala187=)
NM_000288.4(PEX7):c.570A>G (p.Val190=)
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851
NM_000288.4(PEX7):c.57C>T (p.Gly19=)
NM_000288.4(PEX7):c.60C>T (p.Tyr20=)
NM_000288.4(PEX7):c.630T>C (p.Asn210=) rs1466368201
NM_000288.4(PEX7):c.63C>G (p.Ala21=)
NM_000288.4(PEX7):c.63C>T (p.Ala21=)
NM_000288.4(PEX7):c.640C>T (p.Leu214=) rs1582759870
NM_000288.4(PEX7):c.648C>G (p.Thr216=)
NM_000288.4(PEX7):c.648C>T (p.Thr216=)
NM_000288.4(PEX7):c.654G>T (p.Ala218=) rs1414537422
NM_000288.4(PEX7):c.672A>G (p.Arg224=) rs747145944
NM_000288.4(PEX7):c.681C>T (p.Asp227=)
NM_000288.4(PEX7):c.685A>C (p.Arg229=)
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418
NM_000288.4(PEX7):c.726C>T (p.Thr242=)
NM_000288.4(PEX7):c.72C>T (p.Phe24=)
NM_000288.4(PEX7):c.739A>C (p.Arg247=)
NM_000288.4(PEX7):c.741G>A (p.Arg247=)
NM_000288.4(PEX7):c.748-4G>T rs74658757
NM_000288.4(PEX7):c.748-9T>C
NM_000288.4(PEX7):c.759T>C (p.Phe253=)
NM_000288.4(PEX7):c.75C>T (p.Ser25=)
NM_000288.4(PEX7):c.777C>G (p.Ala259=)
NM_000288.4(PEX7):c.786G>A (p.Ser262=)
NM_000288.4(PEX7):c.789T>C (p.Tyr263=)
NM_000288.4(PEX7):c.78G>A (p.Pro26=)
NM_000288.4(PEX7):c.803+14dup
NM_000288.4(PEX7):c.804-5C>T rs369653173
NM_000288.4(PEX7):c.81C>T (p.Tyr27=)
NM_000288.4(PEX7):c.82C>T (p.Leu28=)
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764
NM_000288.4(PEX7):c.867T>C (p.Thr289=) rs936175997
NM_000288.4(PEX7):c.903+7G>T rs1227993935
NM_000288.4(PEX7):c.903+8A>G rs779919482
NM_000288.4(PEX7):c.90C>A (p.Gly30=)
NM_000288.4(PEX7):c.957T>C (p.Leu319=)
NM_000288.4(PEX7):c.971G>A (p.Ter324=)
NM_000288.4(PEX7):c.9G>C (p.Ala3=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.