ClinVar Miner

List of variants in gene PEX6 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 96
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HGVS dbSNP
NM_000287.3(PEX6):c.-2C>G rs376675730
NM_000287.3(PEX6):c.1014C>T (p.Asp338=) rs140806942
NM_000287.3(PEX6):c.1047-4G>T rs748779475
NM_000287.3(PEX6):c.1150A>C (p.Lys384Gln) rs769388552
NM_000287.3(PEX6):c.1220C>A (p.Thr407Asn) rs886043987
NM_000287.3(PEX6):c.1303C>A (p.Pro435Thr) rs115186444
NM_000287.3(PEX6):c.1310G>A (p.Gly437Asp)
NM_000287.3(PEX6):c.1313T>C (p.Leu438Pro) rs778025463
NM_000287.3(PEX6):c.1335C>G (p.Leu445=) rs142958800
NM_000287.3(PEX6):c.1362G>A (p.Gln454=) rs1360001006
NM_000287.3(PEX6):c.1368G>A (p.Gly456=) rs763725671
NM_000287.3(PEX6):c.1405C>T (p.Arg469Trp) rs757334412
NM_000287.3(PEX6):c.1455T>C (p.Ser485=) rs749798782
NM_000287.3(PEX6):c.1511G>A (p.Ser504Asn) rs770340288
NM_000287.3(PEX6):c.1531C>T (p.Leu511=) rs147567606
NM_000287.3(PEX6):c.1550G>C (p.Arg517Pro) rs371782808
NM_000287.3(PEX6):c.1606C>T (p.Arg536Trp) rs368752843
NM_000287.3(PEX6):c.1670A>G (p.Asn557Ser) rs138621982
NM_000287.3(PEX6):c.1677C>A (p.Asp559Glu) rs61732159
NM_000287.3(PEX6):c.1718C>T (p.Thr573Ile) rs140769712
NM_000287.3(PEX6):c.1757C>T (p.Ala586Val) rs146416679
NM_000287.3(PEX6):c.1774G>A (p.Glu592Lys) rs375288192
NM_000287.3(PEX6):c.185C>T (p.Ala62Val) rs991131935
NM_000287.3(PEX6):c.1884+3G>A rs377041406
NM_000287.3(PEX6):c.1928G>T (p.Ser643Ile) rs1554127125
NM_000287.3(PEX6):c.1958C>T (p.Ser653Leu) rs267608228
NM_000287.3(PEX6):c.2078C>A (p.Ala693Asp) rs748535121
NM_000287.3(PEX6):c.2095-21_2095-10delCACGCACTTTCC rs772869377
NM_000287.3(PEX6):c.2104G>A (p.Val702Met) rs377421228
NM_000287.3(PEX6):c.2148G>A (p.Glu716=) rs766104579
NM_000287.3(PEX6):c.2183C>T (p.Pro728Leu) rs142899308
NM_000287.3(PEX6):c.240G>A (p.Leu80=) rs1554128547
NM_000287.3(PEX6):c.2493C>T (p.Ala831=) rs775778545
NM_000287.3(PEX6):c.25C>T (p.Leu9=) rs183449855
NM_000287.3(PEX6):c.2619T>C (p.Asn873=) rs886043369
NM_000287.3(PEX6):c.2667-10C>A rs1554126803
NM_000287.3(PEX6):c.2672A>G (p.Lys891Arg) rs886044685
NM_000287.3(PEX6):c.2700C>T (p.Asn900=) rs533766104
NM_000287.3(PEX6):c.2736G>A (p.Ala912=) rs202049230
NM_000287.3(PEX6):c.2746T>C (p.Ser916Pro) rs370031396
NM_000287.3(PEX6):c.2783G>A (p.Arg928His) rs201265954
NM_000287.3(PEX6):c.2882C>T (p.Ser961Leu) rs886043724
NM_000287.3(PEX6):c.2906G>A (p.Arg969Gln) rs374426032
NM_000287.3(PEX6):c.306G>T (p.Ala102=) rs727504083
NM_000287.3(PEX6):c.348C>T (p.Leu116=) rs746578841
NM_000287.3(PEX6):c.367C>T (p.Leu123=) rs758218388
NM_000287.3(PEX6):c.382G>A (p.Gly128Arg) rs1554128505
NM_000287.3(PEX6):c.407C>A (p.Pro136Gln) rs376824422
NM_000287.3(PEX6):c.488G>C (p.Arg163Pro) rs778791031
NM_000287.3(PEX6):c.612A>G (p.Ser204=) rs886043877
NM_000287.3(PEX6):c.617G>A (p.Gly206Glu) rs139093654
NM_000287.3(PEX6):c.643C>A (p.Leu215Ile) rs865933425
NM_000287.3(PEX6):c.686G>A (p.Arg229Lys) rs1260446318
NM_000287.3(PEX6):c.719C>G (p.Ala240Gly) rs372269200
NM_000287.3(PEX6):c.870G>C (p.Glu290Asp) rs150358700
NM_000287.3(PEX6):c.896G>C (p.Gly299Ala) rs548459114
NM_000287.4(PEX6):c.106C>T (p.Leu36=)
NM_000287.4(PEX6):c.1137G>A (p.Arg379=)
NM_000287.4(PEX6):c.1206C>T (p.Ala402=)
NM_000287.4(PEX6):c.1231A>G (p.Met411Val)
NM_000287.4(PEX6):c.123G>A (p.Arg41=)
NM_000287.4(PEX6):c.1417G>A (p.Gly473Ser)
NM_000287.4(PEX6):c.1550G>A (p.Arg517Gln)
NM_000287.4(PEX6):c.1607G>A (p.Arg536Gln)
NM_000287.4(PEX6):c.1688+3A>G
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln)
NM_000287.4(PEX6):c.1823T>C (p.Leu608Pro)
NM_000287.4(PEX6):c.1877G>A (p.Arg626Gln)
NM_000287.4(PEX6):c.1979C>T (p.Thr660Ile)
NM_000287.4(PEX6):c.2008G>T (p.Ala670Ser)
NM_000287.4(PEX6):c.2094+6G>A
NM_000287.4(PEX6):c.2182C>T (p.Pro728Ser)
NM_000287.4(PEX6):c.219G>A (p.Gln73=)
NM_000287.4(PEX6):c.2282G>A (p.Cys761Tyr)
NM_000287.4(PEX6):c.2301-5_2301-2del
NM_000287.4(PEX6):c.2350A>G (p.Asn784Asp)
NM_000287.4(PEX6):c.2459G>A (p.Gly820Glu)
NM_000287.4(PEX6):c.2615C>T (p.Ala872Val)
NM_000287.4(PEX6):c.2667-4A>G
NM_000287.4(PEX6):c.2717C>T (p.Pro906Leu)
NM_000287.4(PEX6):c.2885T>C (p.Val962Ala)
NM_000287.4(PEX6):c.332C>T (p.Ser111Leu)
NM_000287.4(PEX6):c.363G>A (p.Gly121=)
NM_000287.4(PEX6):c.446T>A (p.Leu149Gln)
NM_000287.4(PEX6):c.465G>C (p.Leu155=)
NM_000287.4(PEX6):c.4G>A (p.Ala2Thr)
NM_000287.4(PEX6):c.574C>G (p.Arg192Gly)
NM_000287.4(PEX6):c.697A>G (p.Asn233Asp)
NM_000287.4(PEX6):c.740C>G (p.Pro247Arg)
NM_000287.4(PEX6):c.757G>A (p.Asp253Asn)
NM_000287.4(PEX6):c.759T>C (p.Asp253=)
NM_000287.4(PEX6):c.762A>G (p.Arg254=)
NM_000287.4(PEX6):c.781C>T (p.Pro261Ser)
NM_000287.4(PEX6):c.807A>G (p.Gly269=)
NM_000287.4(PEX6):c.855C>A (p.Pro285=)
NM_000287.4(PEX6):c.988C>T (p.His330Tyr)

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