List of variants in gene PEX14 reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 47

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HGVS	dbSNP	gnomAD frequency
NM_004565.3(PEX14):c.267C>G (p.Val89=)	rs146359055	0.00097
NM_004565.3(PEX14):c.602A>G (p.Asn201Ser)	rs142285791	0.00083
NM_004565.3(PEX14):c.29C>G (p.Pro10Arg)	rs12068754	0.00080
NM_004565.3(PEX14):c.1116C>T (p.Asn372=)	rs149856184	0.00066
NM_004565.3(PEX14):c.474C>A (p.Ser158Arg)	rs145867351	0.00057
NM_004565.3(PEX14):c.416G>A (p.Arg139Gln)	rs147683525	0.00029
NM_004565.3(PEX14):c.451G>A (p.Gly151Ser)	rs145888212	0.00029
NM_004565.3(PEX14):c.360A>G (p.Ala120=)	rs148479162	0.00021
NM_004565.3(PEX14):c.18G>C (p.Gln6His)	rs200395336	0.00019
NM_004565.3(PEX14):c.222C>T (p.Ala74=)	rs147043673	0.00019
NM_004565.3(PEX14):c.303C>T (p.Pro101=)	rs199552789	0.00014
NM_004565.3(PEX14):c.1101C>T (p.Pro367=)	rs146053705	0.00013
NM_004565.3(PEX14):c.381C>T (p.Tyr127=)	rs372630614	0.00013
NM_004565.3(PEX14):c.693A>G (p.Pro231=)	rs145899844	0.00011
NM_004565.3(PEX14):c.818C>T (p.Ser273Leu)	rs149801951	0.00010
NM_004565.3(PEX14):c.1013A>G (p.Asp338Gly)	rs201120958	0.00007
NM_004565.3(PEX14):c.1107C>T (p.Gly369=)	rs781098256	0.00007
NM_004565.3(PEX14):c.274C>G (p.Pro92Ala)	rs199525137	0.00006
NM_004565.3(PEX14):c.330C>T (p.Gly110=)	rs772527603	0.00004
NM_004565.3(PEX14):c.882C>G (p.Gly294=)	rs928631810	0.00004
NM_004565.3(PEX14):c.93G>A (p.Thr31=)	rs139797106	0.00004
NM_004565.3(PEX14):c.996T>C (p.Asp332=)	rs201978719	0.00004
NM_004565.3(PEX14):c.807C>T (p.Asn269=)	rs757658916	0.00003
NM_004565.3(PEX14):c.-7C>T	rs774075581	0.00002
NM_004565.3(PEX14):c.170-4C>A	rs764907398	0.00002
NM_004565.3(PEX14):c.434T>G (p.Leu145Arg)	rs766372356	0.00002
NM_004565.3(PEX14):c.824C>T (p.Ser275Leu)	rs727504081	0.00002
NM_004565.3(PEX14):c.897C>T (p.Gly299=)	rs747580093	0.00002
NM_004565.3(PEX14):c.1025G>A (p.Cys342Tyr)	rs774432688	0.00001
NM_004565.3(PEX14):c.1056C>T (p.Gly352=)	rs372035480	0.00001
NM_004565.3(PEX14):c.163A>C (p.Lys55Gln)	rs753472251	0.00001
NM_004565.3(PEX14):c.314G>A (p.Arg105Gln)	rs754085368	0.00001
NM_004565.3(PEX14):c.36+6G>T	rs369035854	0.00001
NM_004565.3(PEX14):c.411C>T (p.Gly137=)	rs775297789	0.00001
NM_004565.3(PEX14):c.816G>A (p.Thr272=)	rs572028093	0.00001
NM_004565.2(PEX14):c.987_995dup (p.Asp331_Asp332insGluGluAsp)	rs1318692969
NM_004565.3(PEX14):c.1008T>G (p.His336Gln)	rs770817636
NM_004565.3(PEX14):c.1013_1014inv (p.Asp338Gly)
NM_004565.3(PEX14):c.1108G>T (p.Ala370Ser)	rs1557443140
NM_004565.3(PEX14):c.21A>C (p.Ala7=)	rs398124174
NM_004565.3(PEX14):c.299-8G>A	rs112851814
NM_004565.3(PEX14):c.299-8G>T	rs112851814
NM_004565.3(PEX14):c.395T>C (p.Leu132Pro)	rs1553121467
NM_004565.3(PEX14):c.474C>T (p.Ser158=)	rs145867351
NM_004565.3(PEX14):c.48T>C (p.Thr16=)	rs779545665
NM_004565.3(PEX14):c.631G>A (p.Glu211Lys)	rs777737482
NM_004565.3(PEX14):c.85-6C>G	rs886044596

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