ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 9B by Invitae

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ClinVar version:
Total variants: 153
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HGVS dbSNP
NC_000006.11:g.(?_137166776_137167549del
NC_000006.11:g.(?_137187755)_(137193401_?)del
NC_000006.11:g.(?_137187765)_(137191141_?)dup
NC_000006.12:g.(?_136821564)_(136914934_?)dup
NM_000288.4(PEX7):c.111G>A (p.Ala37=)
NM_000288.4(PEX7):c.112C>T (p.Gln38Ter)
NM_000288.4(PEX7):c.115C>A (p.His39Asn)
NM_000288.4(PEX7):c.116A>G (p.His39Arg)
NM_000288.4(PEX7):c.117C>T (p.His39=)
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238
NM_000288.4(PEX7):c.121G>C (p.Gly41Arg)
NM_000288.4(PEX7):c.126C>T (p.Ile42=) rs1464741803
NM_000288.4(PEX7):c.128C>T (p.Ala43Val)
NM_000288.4(PEX7):c.129G>C (p.Ala43=)
NM_000288.4(PEX7):c.130+10C>A rs794726882
NM_000288.4(PEX7):c.130+1G>A rs267608253
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.131-1G>A
NM_000288.4(PEX7):c.131-6C>G
NM_000288.4(PEX7):c.131-8C>G
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.159A>G (p.Pro53=)
NM_000288.4(PEX7):c.171G>C (p.Gly57=) rs750791932
NM_000288.4(PEX7):c.17G>C (p.Gly6Ala)
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.188+1G>C rs267608254
NM_000288.4(PEX7):c.188+3A>G rs200234391
NM_000288.4(PEX7):c.193G>A (p.Asp65Asn)
NM_000288.4(PEX7):c.203A>T (p.Asp68Val) rs763388501
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.244G>A (p.Val82Ile)
NM_000288.4(PEX7):c.258T>C (p.Cys86=)
NM_000288.4(PEX7):c.273G>A (p.Ser91=)
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.27G>A (p.Ala9=)
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg)
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.331G>A (p.Ala111Thr)
NM_000288.4(PEX7):c.339+10A>C rs374668045
NM_000288.4(PEX7):c.339+10A>G rs374668045
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000288.4(PEX7):c.340-8G>A rs528317074
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154
NM_000288.4(PEX7):c.346_348del (p.Ser116del)
NM_000288.4(PEX7):c.34C>T (p.Leu12=)
NM_000288.4(PEX7):c.363_526+230del rs1582744649
NM_000288.4(PEX7):c.364del (p.Thr122fs)
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys)
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.4(PEX7):c.408T>C (p.Thr136=)
NM_000288.4(PEX7):c.413A>G (p.Lys138Arg)
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.418-1G>C
NM_000288.4(PEX7):c.418-3T>C
NM_000288.4(PEX7):c.418-4G>A rs199552223
NM_000288.4(PEX7):c.418-4G>T rs199552223
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248
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.45_52dup (p.His18fs) rs63535662
NM_000288.4(PEX7):c.462T>C (p.His154=)
NM_000288.4(PEX7):c.465A>G (p.Glu155=) rs1582745048
NM_000288.4(PEX7):c.467G>A (p.Ser156Asn)
NM_000288.4(PEX7):c.46G>C (p.Gly16Arg)
NM_000288.4(PEX7):c.474_477del (p.Tyr159fs)
NM_000288.4(PEX7):c.480C>T (p.Ser160=)
NM_000288.4(PEX7):c.49_70dup (p.Phe24fs)
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+14T>C rs73777756
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.592C>T (p.Gln198Ter) rs764924345
NM_000288.4(PEX7):c.60C>T (p.Tyr20=)
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245
NM_000288.4(PEX7):c.629A>G (p.Asn210Ser)
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.649G>A (p.Gly217Arg) rs121909152
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151
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.694C>T (p.Arg232Ter) rs121909153
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418
NM_000288.4(PEX7):c.701C>T (p.Pro234Leu)
NM_000288.4(PEX7):c.726C>T (p.Thr242=)
NM_000288.4(PEX7):c.72C>T (p.Phe24=)
NM_000288.4(PEX7):c.736_747+17del rs1057517257
NM_000288.4(PEX7):c.739A>C (p.Arg247=)
NM_000288.4(PEX7):c.741G>A (p.Arg247=)
NM_000288.4(PEX7):c.747+20_747+24del rs199624608
NM_000288.4(PEX7):c.748-16C>T
NM_000288.4(PEX7):c.748-4G>T rs74658757
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000288.4(PEX7):c.748-5dup rs563675060
NM_000288.4(PEX7):c.748-9T>C
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
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.832C>T (p.Leu278Phe)
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764
NM_000288.4(PEX7):c.860_861del (p.Glu287fs)
NM_000288.4(PEX7):c.867T>C (p.Thr289=) rs936175997
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000288.4(PEX7):c.903+1G>C rs148591292
NM_000288.4(PEX7):c.903+7G>T rs1227993935
NM_000288.4(PEX7):c.903+8A>G rs779919482
NM_000288.4(PEX7):c.904-4C>G
NM_000288.4(PEX7):c.90C>A (p.Gly30=)
NM_000288.4(PEX7):c.917C>T (p.Ser306Phe)
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118
NM_000288.4(PEX7):c.957T>C (p.Leu319=)
NM_000288.4(PEX7):c.968C>A (p.Ala323Asp)
NM_000288.4(PEX7):c.970T>C (p.Ter324Arg)
NM_000288.4(PEX7):c.971G>A (p.Ter324=)
NM_000288.4(PEX7):c.9G>C (p.Ala3=)

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