ClinVar Miner

List of variants in gene PEX14 studied for not provided

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Gene type:
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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_004565.3(PEX14):c.384+181T>C rs284236 0.99593
NM_004565.3(PEX14):c.169+34A>G rs2480779 0.95850
NM_004565.3(PEX14):c.169+176A>G rs2480778 0.94426
NM_004565.3(PEX14):c.37-74C>T rs622623 0.63618
NM_004565.3(PEX14):c.156C>T (p.Phe52=) rs12375 0.25602
NM_004565.3(PEX14):c.384+14A>T rs284238 0.19360
NM_004565.3(PEX14):c.384+136G>A rs284237 0.19304
NM_004565.3(PEX14):c.169+268G>A rs10779738 0.15823
NM_004565.3(PEX14):c.169+270C>T rs10864461 0.15812
NM_004565.3(PEX14):c.1032G>T (p.Gly344=) rs11539794 0.13336
NC_000001.11:g.10474698C>A rs72869122 0.07162
NM_004565.3(PEX14):c.385-219C>T rs75827648 0.05080
NM_004565.3(PEX14):c.487+64C>T rs2242289 0.04366
NM_004565.3(PEX14):c.1014C>T (p.Asp338=) rs2128414 0.04291
NM_004565.3(PEX14):c.85-288A>G rs12408852 0.02580
NM_004565.3(PEX14):c.475G>A (p.Val159Met) rs74052157 0.02375
NM_004565.3(PEX14):c.384+257C>T rs77256719 0.01733
NM_004565.3(PEX14):c.169+68C>T rs115344694 0.01583
NM_004565.3(PEX14):c.586-257C>T rs147208801 0.01111
NM_004565.3(PEX14):c.768G>A (p.Val256=) rs36083022 0.01070
NM_004565.3(PEX14):c.959G>A (p.Arg320Lys) rs12070353 0.00912
NM_004565.3(PEX14):c.213C>G (p.Gly71=) rs41274482 0.00899
NM_004565.3(PEX14):c.170-143C>T rs145432748 0.00726
NM_004565.3(PEX14):c.586-153C>T rs188386819 0.00671
NM_004565.3(PEX14):c.385-176G>A rs150713371 0.00628
NM_004565.3(PEX14):c.795A>G (p.Ser265=) rs41274484 0.00451
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.297C>T (p.Tyr99=) rs371473184 0.00004
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
NC_000001.11:g.10474780C>G rs115474604
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.81G>A (p.Pro27=) rs1557810674
NM_004565.3(PEX14):c.85-248C>T rs2506889
NM_004565.3(PEX14):c.85-6C>G rs886044596
NM_004565.3(PEX14):c.939G>T (p.Val313=) rs1408463885

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