ClinVar Miner

List of variants in gene PEX5 reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser) rs139364109 0.00013
NM_001351132.2(PEX5):c.135_147+32del
NM_001351132.2(PEX5):c.135_147+33delinsC rs2135880243
NM_001351132.2(PEX5):c.138del (p.Ser47fs)
NM_001351132.2(PEX5):c.147+2T>G
NM_001351132.2(PEX5):c.147+4A>G
NM_001351132.2(PEX5):c.1561-2A>G rs2136254229
NM_001351132.2(PEX5):c.317-2A>G rs2135903939
NM_001351132.2(PEX5):c.552-1G>A rs1064793563
NM_001351132.2(PEX5):c.753+1G>A
NM_001351132.2(PEX5):c.753+2T>C
NM_001351132.2(PEX5):c.754-2A>C
NM_001351132.2(PEX5):c.846+1G>A
NM_001351132.2(PEX5):c.847-2A>G
NM_001351132.2(PEX5):c.847-7_861del
NM_001351132.2(PEX5):c.966+1G>C rs2136176386
NM_001351132.2(PEX5):c.967-1G>A
NM_001351132.2(PEX5):c.967-1_971del

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