ClinVar Miner

List of variants in gene PEX7 studied for Zellweger syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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NM_000288.3(PEX7):c.120C>G (p.Tyr40Ter) rs61753238
NM_000288.3(PEX7):c.13_19dup (p.Gly7Valfs) rs62636519
NM_000288.3(PEX7):c.183delT (p.Phe61Leufs) rs774131564
NM_000288.3(PEX7):c.340-10A>G rs267608255
NM_000288.3(PEX7):c.345T>G (p.Tyr115Ter) rs121909154
NM_000288.3(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.3(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.3(PEX7):c.45_52dupGGGACGCC (p.His18Argfs) rs63535662
NM_000288.3(PEX7):c.649G>A (p.Gly217Arg) rs121909152
NM_000288.3(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000288.3(PEX7):c.695G>A (p.Arg232Gln) rs191969418
NM_000288.3(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.3(PEX7):c.86C>T (p.Pro29Leu) rs757852291
NM_000288.3(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000288.3(PEX7):c.903+1G>C rs148591292

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