ClinVar Miner

List of variants in gene PEX3 reported by Eurofins NTD LLC (GA)

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_003630.3(PEX3):c.942-13A>G rs161058 0.51037
NM_003630.3(PEX3):c.332-20C>G rs3762000 0.32211
NM_003630.3(PEX3):c.1008T>C (p.Val336=) rs141932856 0.00128
NM_003630.3(PEX3):c.856C>A (p.Arg286=) rs147556993 0.00128
NM_003630.3(PEX3):c.578+8A>G rs200807211 0.00101
NM_003630.3(PEX3):c.165A>G (p.Gln55=) rs41285015 0.00090
NM_003630.3(PEX3):c.456+3A>G rs113147921 0.00017
NM_003630.3(PEX3):c.473C>G (p.Pro158Arg) rs199781957 0.00007
NM_003630.3(PEX3):c.1121G>T (p.Ter374Leu) rs774871856 0.00004
NM_003630.3(PEX3):c.646G>A (p.Val216Ile) rs753255145 0.00004
NM_003630.3(PEX3):c.818+3A>G rs975195178 0.00004
NM_003630.3(PEX3):c.899G>A (p.Arg300Gln) rs200463608 0.00003
NM_003630.3(PEX3):c.953T>G (p.Val318Gly) rs777720719 0.00003
NM_003630.3(PEX3):c.88G>C (p.Gly30Arg) rs765130422 0.00002
NM_003630.3(PEX3):c.1100C>T (p.Thr367Ile) rs1026394357 0.00001
NM_003630.3(PEX3):c.288-1G>A rs752904598 0.00001
NM_003630.3(PEX3):c.389G>A (p.Arg130Gln) rs758701470 0.00001
NM_003630.3(PEX3):c.513A>G (p.Leu171=) rs769938240 0.00001
NM_003630.3(PEX3):c.748-4A>G rs1024883914 0.00001
NM_003630.3(PEX3):c.879C>T (p.Asp293=) rs1269033993 0.00001
NM_003630.3(PEX3):c.1038+4A>G rs727504082
NM_003630.3(PEX3):c.183C>A (p.Asn61Lys) rs762601927
NM_003630.3(PEX3):c.254A>G (p.Asn85Ser) rs1562652385
NM_003630.3(PEX3):c.331+2_331+5del rs1562653663
NM_003630.3(PEX3):c.396G>C (p.Gln132His) rs1484027885
NM_003630.3(PEX3):c.499A>G (p.Ser167Gly) rs1562654651
NM_003630.3(PEX3):c.537G>T (p.Leu179Phe) rs374599874
NM_003630.3(PEX3):c.856C>T (p.Arg286Ter) rs147556993
NM_003630.3(PEX3):c.923A>T (p.His308Leu) rs775058985

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