ClinVar Miner

List of variants in gene PEX1 reported as benign by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_000466.3(PEX1):c.358-15G>A rs38809 0.86650
NM_000466.3(PEX1):c.358-11G>C rs113104510 0.04153
NM_000466.3(PEX1):c.473-18G>A rs2066743 0.03344
NM_000466.3(PEX1):c.2584-20T>A rs111535201 0.02687
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_000466.3(PEX1):c.1671-7T>C rs74519968 0.01312
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser) rs138183109 0.00874
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975 0.00803
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_000466.3(PEX1):c.2718+3A>G rs370536529 0.00040
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000466.3(PEX1):c.2584-21dup rs5885806

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