ClinVar Miner

List of variants in gene PEX6 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.1961+20G>A rs2274514 0.56870
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186 0.56758
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40569
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187 0.40479
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515 0.06152
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516 0.02086
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949 0.00686
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676 0.00583
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000287.4(PEX6):c.882+15_882+16del rs555409430 0.00189
NM_000287.4(PEX6):c.685A>G (p.Arg229Gly) rs146571927 0.00176
NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys) rs150046979 0.00175
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712 0.00122
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu) rs61732159 0.00093
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220 0.00067
NM_000287.4(PEX6):c.1757C>T (p.Ala586Val) rs146416679 0.00039
NM_000287.4(PEX6):c.-2C>G rs376675730 0.00036
NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser) rs138621982 0.00030
NM_000287.4(PEX6):c.2700C>T (p.Asn900=) rs533766104 0.00029
NM_000287.4(PEX6):c.1884+3G>A rs377041406 0.00026
NM_000287.4(PEX6):c.306G>T (p.Ala102=) rs727504083 0.00026
NM_000287.4(PEX6):c.372G>C (p.Leu124=) rs752732049 0.00021
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308 0.00016
NM_000287.4(PEX6):c.2867C>T (p.Ala956Val) rs200115671 0.00014
NM_000287.4(PEX6):c.1607G>A (p.Arg536Gln) rs138431842 0.00009
NM_000287.4(PEX6):c.1773C>T (p.Leu591=) rs56328719 0.00009
NM_000287.4(PEX6):c.390C>T (p.Thr130=) rs753963225 0.00008
NM_000287.4(PEX6):c.1680C>T (p.Pro560=) rs372998833 0.00007
NM_000287.4(PEX6):c.1387A>G (p.Thr463Ala) rs182308788 0.00005
NM_000287.4(PEX6):c.2229T>C (p.His743=) rs145849057 0.00005
NM_000287.4(PEX6):c.2730G>A (p.Thr910=) rs774721609 0.00005
NM_000287.4(PEX6):c.2891dup (p.Gln965fs) rs753862792 0.00005
NM_000287.4(PEX6):c.1354C>T (p.Arg452Cys) rs762734034 0.00004
NM_000287.4(PEX6):c.411G>A (p.Arg137=) rs769196737 0.00004
NM_000287.4(PEX6):c.690G>A (p.Glu230=) rs368341252 0.00004
NM_000287.4(PEX6):c.939T>C (p.Pro313=) rs151234121 0.00004
NM_000287.4(PEX6):c.1195G>A (p.Ala399Thr) rs564483086 0.00003
NM_000287.4(PEX6):c.1207G>A (p.Asp403Asn) rs535326039 0.00003
NM_000287.4(PEX6):c.1137G>T (p.Arg379=) rs766574538 0.00002
NM_000287.4(PEX6):c.1746T>C (p.Asp582=) rs756462650 0.00002
NM_000287.4(PEX6):c.192C>G (p.Thr64=) rs1310661091 0.00002
NM_000287.4(PEX6):c.2254C>G (p.Leu752Val) rs374975985 0.00002
NM_000287.4(PEX6):c.2643C>T (p.Arg881=) rs150853105 0.00002
NM_000287.4(PEX6):c.1231A>G (p.Met411Val) rs752177240 0.00001
NM_000287.4(PEX6):c.1260A>G (p.Pro420=) rs139409107 0.00001
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160 0.00001
NM_000287.4(PEX6):c.1290G>T (p.Trp430Cys) rs1457151665 0.00001
NM_000287.4(PEX6):c.1392C>T (p.Ser464=) rs1345870957 0.00001
NM_000287.4(PEX6):c.1737G>A (p.Leu579=) rs766766609 0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225 0.00001
NM_000287.4(PEX6):c.1884A>G (p.Ala628=) rs779124738 0.00001
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246 0.00001
NM_000287.4(PEX6):c.478C>T (p.Leu160Phe) rs1336576924 0.00001
NM_000287.4(PEX6):c.773G>C (p.Gly258Ala) rs1030087734 0.00001
NM_000287.4(PEX6):c.804C>T (p.Asp268=) rs761372470 0.00001
NM_000287.4(PEX6):c.84G>A (p.Pro28=) rs1236425028 0.00001
NM_000287.4(PEX6):c.883-8T>C rs777174653 0.00001
NM_000287.4(PEX6):c.990C>T (p.His330=) rs947712788 0.00001
NM_000287.4(PEX6):c.-9C>T
NM_000287.4(PEX6):c.1007A>G (p.Asn336Ser)
NM_000287.4(PEX6):c.1255G>C (p.Val419Leu) rs773054165
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1348A>C (p.Lys450Gln)
NM_000287.4(PEX6):c.135G>A (p.Glu45=) rs2150240712
NM_000287.4(PEX6):c.1404A>G (p.Leu468=)
NM_000287.4(PEX6):c.1524G>A (p.Glu508=)
NM_000287.4(PEX6):c.1706T>C (p.Val569Ala)
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro) rs61752140
NM_000287.4(PEX6):c.1740T>G (p.Pro580=) rs2114242721
NM_000287.4(PEX6):c.1774G>A (p.Glu592Lys) rs375288192
NM_000287.4(PEX6):c.1887C>T (p.Gly629=)
NM_000287.4(PEX6):c.1922A>C (p.His641Pro)
NM_000287.4(PEX6):c.2026G>A (p.Ala676Thr)
NM_000287.4(PEX6):c.2057T>C (p.Leu686Pro)
NM_000287.4(PEX6):c.2095-21C>G
NM_000287.4(PEX6):c.2111G>C (p.Trp704Ser)
NM_000287.4(PEX6):c.2268A>T (p.Ala756=) rs1769801311
NM_000287.4(PEX6):c.2300+26G>A
NM_000287.4(PEX6):c.2301-5_2301-2del rs748032659
NM_000287.4(PEX6):c.235G>A (p.Ala79Thr) rs61752141
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000287.4(PEX6):c.2472G>C (p.Arg824Ser)
NM_000287.4(PEX6):c.265G>C (p.Gly89Arg)
NM_000287.4(PEX6):c.2865C>T (p.Ala955=) rs1407928755
NM_000287.4(PEX6):c.445C>T (p.Leu149=) rs2150240046
NM_000287.4(PEX6):c.49C>T (p.Pro17Ser)
NM_000287.4(PEX6):c.524G>T (p.Arg175Leu)
NM_000287.4(PEX6):c.541G>A (p.Val181Met)
NM_000287.4(PEX6):c.749A>G (p.Asp250Gly)
NM_000287.4(PEX6):c.751C>G (p.Leu251Val) rs769332435
NM_000287.4(PEX6):c.819C>T (p.Val273=) rs748814053
NM_000287.4(PEX6):c.871C>T (p.Leu291Phe)
NM_000287.4(PEX6):c.882+9A>G
NM_000287.4(PEX6):c.898T>G (p.Ser300Ala)
NM_000287.4(PEX6):c.924C>T (p.Ser308=)

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