ClinVar Miner

List of variants reported as uncertain significance for Peroxisome biogenesis disorder 9B

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Total variants: 58
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HGVS dbSNP
NC_000006.12:g.(?_136821564)_(136914934_?)dup
NM_000288.4(PEX7):c.*124A>G
NM_000288.4(PEX7):c.*223T>A
NM_000288.4(PEX7):c.*305C>A rs567568009
NM_000288.4(PEX7):c.*305C>T rs567568009
NM_000288.4(PEX7):c.*367T>C rs886061124
NM_000288.4(PEX7):c.-18C>T
NM_000288.4(PEX7):c.-28G>A rs376808803
NM_000288.4(PEX7):c.-35G>A rs886061116
NM_000288.4(PEX7):c.-3G>A rs886061117
NM_000288.4(PEX7):c.-69C>A
NM_000288.4(PEX7):c.115C>A (p.His39Asn)
NM_000288.4(PEX7):c.116A>G (p.His39Arg)
NM_000288.4(PEX7):c.121G>C (p.Gly41Arg)
NM_000288.4(PEX7):c.128C>T (p.Ala43Val)
NM_000288.4(PEX7):c.129G>C (p.Ala43=)
NM_000288.4(PEX7):c.130+11G>T rs886061119
NM_000288.4(PEX7):c.130+13C>A rs886061120
NM_000288.4(PEX7):c.17G>C (p.Gly6Ala)
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.244G>A (p.Val82Ile)
NM_000288.4(PEX7):c.290C>G (p.Thr97Ser)
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg)
NM_000288.4(PEX7):c.316G>C (p.Val106Leu) rs886061121
NM_000288.4(PEX7):c.331G>A (p.Ala111Thr)
NM_000288.4(PEX7):c.346_348del (p.Ser116del)
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys)
NM_000288.4(PEX7):c.38G>A (p.Arg13Gln)
NM_000288.4(PEX7):c.413A>G (p.Lys138Arg)
NM_000288.4(PEX7):c.418-3T>C
NM_000288.4(PEX7):c.418-4G>T rs199552223
NM_000288.4(PEX7):c.467G>A (p.Ser156Asn)
NM_000288.4(PEX7):c.46G>C (p.Gly16Arg)
NM_000288.4(PEX7):c.496C>T (p.His166Tyr)
NM_000288.4(PEX7):c.534G>C (p.Gln178His) rs746010906
NM_000288.4(PEX7):c.554T>C (p.Val185Ala)
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.629A>G (p.Asn210Ser)
NM_000288.4(PEX7):c.701C>T (p.Pro234Leu)
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys) rs780186421
NM_000288.4(PEX7):c.748-10T>C rs886061122
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile)
NM_000288.4(PEX7):c.804-5C>T rs369653173
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe)
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291
NM_000288.4(PEX7):c.903+8A>G rs779919482
NM_000288.4(PEX7):c.904-4C>G
NM_000288.4(PEX7):c.917C>T (p.Ser306Phe)
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
NM_000288.4(PEX7):c.968C>A (p.Ala323Asp)
NM_000288.4(PEX7):c.970T>C (p.Ter324Arg)

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