ClinVar Miner

List of variants in gene PEX6 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558 0.00486
NM_000287.4(PEX6):c.1071A>G (p.Leu357=) rs116318004 0.00363
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712 0.00122
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220 0.00067
NM_000287.4(PEX6):c.970G>A (p.Glu324Lys) rs201678533 0.00010
NM_000287.4(PEX6):c.939T>C (p.Pro313=) rs151234121 0.00004
NM_000287.4(PEX6):c.1484C>G (p.Pro495Arg) rs762174122 0.00001
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239 0.00001
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240 0.00001
NM_000287.4(PEX6):c.2875C>T (p.Gln959Ter) rs1437291000 0.00001
NM_000287.4(PEX6):c.348C>T (p.Leu116=) rs746578841 0.00001
NM_000287.4(PEX6):c.1027del (p.Arg343fs) rs1388178333
NM_000287.4(PEX6):c.1090C>T (p.Gln364Ter) rs1770166292
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1440TGC[2] (p.Ala483del) rs1554127389
NM_000287.4(PEX6):c.1456C>T (p.His486Tyr) rs1320010518
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln) rs375288192
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.2642G>C (p.Arg881Pro) rs751377690
NM_000287.4(PEX6):c.2782C>T (p.Arg928Cys)
NM_000287.4(PEX6):c.303G>A (p.Pro101=) rs1032414476
NM_000287.4(PEX6):c.831G>A (p.Leu277=)

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