ClinVar Miner

List of variants in gene PEX6 reported as likely pathogenic for Heimler syndrome 2

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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter) rs781475201 0.00003
NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp) rs267608230 0.00002
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln) rs61753231 0.00002
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs) rs1408438094 0.00001
NM_000287.4(PEX6):c.1231A>G (p.Met411Val) rs752177240 0.00001
NM_000287.4(PEX6):c.1233+1G>A rs763459576 0.00001
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160 0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225 0.00001
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239 0.00001
NM_000287.4(PEX6):c.2362+1G>A rs1443107232 0.00001
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln) rs61753229 0.00001
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002 0.00001
NM_000287.4(PEX6):c.1027del (p.Arg343fs) rs1388178333
NM_000287.4(PEX6):c.1036C>T (p.Gln346Ter)
NM_000287.4(PEX6):c.1046+1del
NM_000287.4(PEX6):c.1200C>G (p.Tyr400Ter)
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter) rs886044436
NM_000287.4(PEX6):c.1233+2T>C
NM_000287.4(PEX6):c.1238del (p.Gly413fs)
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp) rs771063294
NM_000287.4(PEX6):c.1326dup (p.Ser443fs) rs2114247458
NM_000287.4(PEX6):c.1367+1G>T
NM_000287.4(PEX6):c.1369_1370dup
NM_000287.4(PEX6):c.1373_1380del (p.Ala458fs)
NM_000287.4(PEX6):c.1415del (p.Pro472fs) rs267608219
NM_000287.4(PEX6):c.1452T>A (p.Cys484Ter)
NM_000287.4(PEX6):c.1500_1501del (p.Ala501fs)
NM_000287.4(PEX6):c.1522del (p.Glu508fs) rs754684285
NM_000287.4(PEX6):c.1691del (p.Cys564fs) rs2114242920
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro) rs61752140
NM_000287.4(PEX6):c.1774G>T (p.Glu592Ter) rs375288192
NM_000287.4(PEX6):c.1797del (p.Gln600fs)
NM_000287.4(PEX6):c.1824del (p.Thr609fs)
NM_000287.4(PEX6):c.1881T>A (p.Cys627Ter)
NM_000287.4(PEX6):c.1933dup (p.Ala645fs)
NM_000287.4(PEX6):c.196G>T (p.Glu66Ter)
NM_000287.4(PEX6):c.2010del (p.Gly671fs)
NM_000287.4(PEX6):c.2041C>T (p.Gln681Ter)
NM_000287.4(PEX6):c.2050G>T (p.Glu684Ter)
NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter) rs201306028
NM_000287.4(PEX6):c.2082del (p.Gly695fs) rs766483138
NM_000287.4(PEX6):c.2094+1G>A rs1581760572
NM_000287.4(PEX6):c.2095-21_2095-10del rs772869377
NM_000287.4(PEX6):c.2237del (p.Pro746fs)
NM_000287.4(PEX6):c.2300+2T>C rs1581760028
NM_000287.4(PEX6):c.2315del (p.Glu772fs)
NM_000287.4(PEX6):c.2363-2A>C rs1769772582
NM_000287.4(PEX6):c.2363-2A>G
NM_000287.4(PEX6):c.2364_2365del rs755716911
NM_000287.4(PEX6):c.2406del (p.Phe802fs) rs1554126965
NM_000287.4(PEX6):c.2414_2417dup (p.Ser807fs)
NM_000287.4(PEX6):c.2422_2423del (p.Leu808fs)
NM_000287.4(PEX6):c.2429del (p.Pro810fs)
NM_000287.4(PEX6):c.2439del (p.Arg814fs) rs1554126955
NM_000287.4(PEX6):c.2439dup (p.Arg814fs) rs1554126955
NM_000287.4(PEX6):c.254del (p.Ala85fs)
NM_000287.4(PEX6):c.2553_2560dup (p.Leu854fs)
NM_000287.4(PEX6):c.2661_2662dup (p.Arg888fs)
NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro) rs267608247
NM_000287.4(PEX6):c.2666+1G>T rs2114236937
NM_000287.4(PEX6):c.2684dup (p.Val896fs)
NM_000287.4(PEX6):c.2780_2783delinsTGACCAGGT (p.Lys927fs)
NM_000287.4(PEX6):c.292_296dup (p.Pro100fs)
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser) rs61752139
NM_000287.4(PEX6):c.386A>T (p.Glu129Val) rs1561831003
NM_000287.4(PEX6):c.406delinsAT (p.Pro136fs) rs1554128488
NM_000287.4(PEX6):c.42_43dup (p.Glu15fs) rs1554128586
NM_000287.4(PEX6):c.500_501del (p.Cys167fs)
NM_000287.4(PEX6):c.506_507del (p.Glu169fs) rs1554128461
NM_000287.4(PEX6):c.53del (p.Pro18fs)
NM_000287.4(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000287.4(PEX6):c.661G>T (p.Glu221Ter) rs786205580
NM_000287.4(PEX6):c.668dup (p.Trp224fs)
NM_000287.4(PEX6):c.747G>A (p.Trp249Ter) rs1770400284
NM_000287.4(PEX6):c.830T>A (p.Leu277Ter)
NM_000287.4(PEX6):c.837dup (p.Asn280Ter)
NM_000287.4(PEX6):c.916_919del (p.Lys306fs) rs2150236148
NM_000287.4(PEX6):c.959_960del (p.Glu320fs)
NM_000287.4(PEX6):c.993C>A (p.Tyr331Ter)

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