ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 9B by Illumina Clinical Services Laboratory,Illumina

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Total variants: 37
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HGVS dbSNP
NM_000288.4(PEX7):c.*115A>G rs0
NM_000288.4(PEX7):c.*124A>G rs0
NM_000288.4(PEX7):c.*223T>A rs0
NM_000288.4(PEX7):c.*272A>G rs186705952
NM_000288.4(PEX7):c.*305C>A rs567568009
NM_000288.4(PEX7):c.*305C>T rs567568009
NM_000288.4(PEX7):c.*306T>G rs1050803
NM_000288.4(PEX7):c.*367T>C rs886061124
NM_000288.4(PEX7):c.*38G>A rs41288965
NM_000288.4(PEX7):c.-18C>T rs0
NM_000288.4(PEX7):c.-28G>A rs376808803
NM_000288.4(PEX7):c.-31G>A rs115866467
NM_000288.4(PEX7):c.-35G>A rs886061116
NM_000288.4(PEX7):c.-3G>A rs886061117
NM_000288.4(PEX7):c.-56C>T rs73777751
NM_000288.4(PEX7):c.-65A>T rs0
NM_000288.4(PEX7):c.-69C>A rs0
NM_000288.4(PEX7):c.130+11G>T rs886061119
NM_000288.4(PEX7):c.130+13C>A rs886061120
NM_000288.4(PEX7):c.188+3A>G rs200234391
NM_000288.4(PEX7):c.316G>C (p.Val106Leu) rs886061121
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.4(PEX7):c.418-4G>T rs199552223
NM_000288.4(PEX7):c.496C>T (p.His166Tyr) rs0
NM_000288.4(PEX7):c.554T>C (p.Val185Ala) rs0
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys) rs780186421
NM_000288.4(PEX7):c.748-10T>C rs886061122
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile) rs0
NM_000288.4(PEX7):c.804-5C>T rs369653173
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764
NM_000288.4(PEX7):c.903+8A>G rs779919482
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys) rs201106072
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118
NM_000288.4(PEX7):c.961A>G (p.Ile321Val) rs879706210

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