ClinVar Miner

List of variants in gene PEX5 studied for bone disorder

Included ClinVar conditions (1436):
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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001351132.2(PEX5):c.967-26C>G rs3816424 0.29403
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) rs146567534 0.00047
NM_001351132.2(PEX5):c.1902G>A (p.Met634Ile) rs145886418 0.00005
NM_001351132.2(PEX5):c.230G>A (p.Arg77His) rs780957318 0.00005
NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter) rs61752137 0.00003
NM_001351132.2(PEX5):c.664A>G (p.Ile222Val) rs778800705 0.00002
NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn) rs201963167 0.00001
NM_001351132.2(PEX5):c.552G>A (p.Trp184Ter) rs1419213790 0.00001
NM_001351132.2(PEX5):c.944_945dup (p.Thr316fs) rs751148574 0.00001
NM_001351132.2(PEX5):c.1182_1183insATCAAACAGATCAAGC (p.Cys395fs)
NM_001351132.2(PEX5):c.1258C>T (p.Arg420Ter) rs777735499
NM_001351132.2(PEX5):c.1296C>G (p.Tyr432Ter)
NM_001351132.2(PEX5):c.135_147+33delinsC rs2135880243
NM_001351132.2(PEX5):c.147+4A>G rs749342175
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001351132.2(PEX5):c.1488_1510del (p.Val496_Leu497insTer)
NM_001351132.2(PEX5):c.1578T>A (p.Asn526Lys) rs61752138
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys) rs61752138
NM_001351132.2(PEX5):c.1819dup (p.Leu607fs) rs2540339398
NM_001351132.2(PEX5):c.420_421inv (p.Trp140_Ser141delinsTer)
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu) rs749729761
NM_001351132.2(PEX5):c.677dup (p.Val227fs) rs796051881
NM_001351132.2(PEX5):c.967-1G>A rs2136226194

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