ClinVar Miner

List of variants in gene PEX1 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00185
NM_000466.3(PEX1):c.130-9T>C rs377337949 0.00157
NM_000466.3(PEX1):c.2645C>T (p.Pro882Leu) rs141764012 0.00066
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu) rs138758170 0.00057
NM_000466.3(PEX1):c.1360-4G>T rs199716270 0.00038
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796 0.00022
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=) rs201719745 0.00022
NM_000466.3(PEX1):c.1268A>G (p.Asn423Ser) rs200857848 0.00021
NM_000466.3(PEX1):c.666T>C (p.Thr222=) rs145609203 0.00010
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229 0.00005
NM_000466.3(PEX1):c.147G>A (p.Val49=) rs202230667 0.00005
NM_000466.3(PEX1):c.1827C>T (p.Ala609=) rs766421421 0.00004
NM_000466.3(PEX1):c.2584-13_2584-12insG rs955834633 0.00003
NM_000466.3(PEX1):c.2268A>G (p.Lys756=) rs1434174453 0.00002
NM_000466.3(PEX1):c.2269T>C (p.Leu757=) rs776758878 0.00002
NM_000466.3(PEX1):c.1981C>T (p.Leu661=) rs1480419846 0.00001
NM_000466.3(PEX1):c.2416+20C>T rs886038302 0.00001
NM_000466.3(PEX1):c.831G>A (p.Gln277=) rs1210178752 0.00001
NM_000466.3(PEX1):c.1137G>A (p.Glu379=)
NM_000466.3(PEX1):c.1240-10del rs1298492061
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.1587A>G (p.Gln529=)
NM_000466.3(PEX1):c.1588-4G>C
NM_000466.3(PEX1):c.1731C>A (p.Arg577=)
NM_000466.3(PEX1):c.2022G>A (p.Pro674=)
NM_000466.3(PEX1):c.2253T>C (p.Asn751=) rs769925670
NM_000466.3(PEX1):c.2472G>A (p.Ala824=) rs764437476
NM_000466.3(PEX1):c.2584-12T>G
NM_000466.3(PEX1):c.2584-21_2584-20insA
NM_000466.3(PEX1):c.2584-9G>C
NM_000466.3(PEX1):c.2766T>G (p.Val922=) rs2116110796
NM_000466.3(PEX1):c.363G>A (p.Leu121=) rs200866361
NM_000466.3(PEX1):c.453G>A (p.Thr151=) rs368714078
NM_000466.3(PEX1):c.472+10A>G rs1792887415
NM_000466.3(PEX1):c.99G>C (p.Arg33=)

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