ClinVar Miner

List of variants in gene EPB42 studied for anemia

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 105
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001114134.2(EPB42):c.833-4A>G rs61343376 0.05117
NM_001114134.2(EPB42):c.-51T>C rs16957499 0.05107
NM_001114134.2(EPB42):c.330G>A (p.Ala110=) rs1042168 0.03903
NM_001114134.2(EPB42):c.10+19C>T rs77809780 0.02853
NM_001114134.2(EPB42):c.654+7G>A rs72721553 0.01821
NM_001114134.2(EPB42):c.1318+4C>T rs45498491 0.01529
NM_001114134.2(EPB42):c.1767C>A (p.His589Gln) rs114354377 0.00619
NM_000119.2(EPB42):c.*82G>A rs148274379 0.00299
NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys) rs45594632 0.00285
NM_001114134.2(EPB42):c.256G>T (p.Asp86Tyr) rs113768282 0.00268
NM_001114134.2(EPB42):c.894C>T (p.Thr298=) rs35719500 0.00225
NM_001114134.2(EPB42):c.453T>C (p.Asn151=) rs114136713 0.00205
NM_001114134.2(EPB42):c.741C>A (p.Gly247=) rs115626075 0.00182
NM_001114134.2(EPB42):c.430+12C>T rs185794093 0.00155
NM_001114134.2(EPB42):c.1672G>A (p.Glu558Lys) rs75424023 0.00133
NM_001114134.2(EPB42):c.10+79G>A rs149249456 0.00119
NM_001114134.2(EPB42):c.1609G>A (p.Ala537Thr) rs45495503 0.00107
NM_001114134.2(EPB42):c.*21T>A rs201342599 0.00076
NM_001114134.2(EPB42):c.10+60C>T rs144428415 0.00070
NM_001114134.2(EPB42):c.1387G>A (p.Gly463Ser) rs148871144 0.00048
NM_001114134.2(EPB42):c.1602G>A (p.Thr534=) rs149742998 0.00048
NM_001114134.2(EPB42):c.581G>A (p.Arg194His) rs146348439 0.00044
NM_001114134.2(EPB42):c.953G>T (p.Gly318Val) rs143974871 0.00044
NM_001114134.2(EPB42):c.2032A>G (p.Asn678Asp) rs201674874 0.00042
NM_001114134.2(EPB42):c.1032T>C (p.Asp344=) rs150481419 0.00026
NM_001114134.2(EPB42):c.10+91G>A rs150530456 0.00024
NM_001114134.2(EPB42):c.1487C>T (p.Thr496Met) rs199787216 0.00024
NM_001114134.2(EPB42):c.556G>C (p.Gly186Arg) rs199634098 0.00023
NM_001114134.2(EPB42):c.1165A>C (p.Ile389Leu) rs141596199 0.00014
NM_001114134.2(EPB42):c.1779+7A>G rs200770579 0.00014
NM_001114134.2(EPB42):c.1058C>T (p.Ala353Val) rs555199291 0.00011
NM_001114134.2(EPB42):c.1636G>A (p.Gly546Ser) rs369068948 0.00011
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys) rs515726212 0.00009
NM_001114134.2(EPB42):c.1124C>T (p.Thr375Met) rs115972761 0.00008
NM_001114134.2(EPB42):c.177G>A (p.Val59=) rs370961712 0.00007
NM_001114134.2(EPB42):c.353C>T (p.Ser118Leu) rs200509497 0.00007
NM_001114134.2(EPB42):c.620A>G (p.Gln207Arg) rs758323919 0.00007
NM_001114134.2(EPB42):c.10+97G>A rs372291145 0.00006
NM_001114134.2(EPB42):c.1007G>A (p.Arg336Gln) rs374503872 0.00006
NM_001114134.2(EPB42):c.137G>A (p.Arg46His) rs202154600 0.00006
NM_001114134.2(EPB42):c.1661G>A (p.Arg554Gln) rs150037117 0.00005
NM_001114134.2(EPB42):c.1265G>T (p.Gly422Val) rs538781293 0.00004
NM_001114134.2(EPB42):c.1288G>A (p.Asp430Asn) rs374417752 0.00004
NM_001114134.2(EPB42):c.210C>T (p.Ser70=) rs180830933 0.00004
NM_001114134.2(EPB42):c.712G>C (p.Glu238Gln) rs886051168 0.00004
NM_001114134.2(EPB42):c.1173C>T (p.Ala391=) rs779896054 0.00003
NM_001114134.2(EPB42):c.1964C>T (p.Thr655Met) rs369127523 0.00003
NM_001114134.2(EPB42):c.1041G>T (p.Gln347His) rs574359460 0.00002
NM_001114134.2(EPB42):c.346C>T (p.His116Tyr) rs886051169 0.00002
NM_001114134.2(EPB42):c.637C>T (p.Arg213Cys) rs115660852 0.00002
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487 0.00001
NM_001114134.2(EPB42):c.1501del (p.Ser501fs) rs777764528 0.00001
NM_001114134.2(EPB42):c.1532T>C (p.Ile511Thr) rs1190513717 0.00001
NM_001114134.2(EPB42):c.308C>A (p.Thr103Asn) rs1374938976 0.00001
NM_001114134.2(EPB42):c.830C>T (p.Thr277Ile) rs515726211 0.00001
NM_001114134.2(EPB42):c.832G>C (p.Val278Leu) rs772330879 0.00001
NM_001114134.2(EPB42):c.860G>A (p.Arg287His) rs371685912 0.00001
NM_001114134.2(EPB42):c.890G>T (p.Gly297Val) rs1292537932 0.00001
NM_001114134.2(EPB42):c.901C>T (p.Arg301Cys) rs886051167 0.00001
NM_000119.2(EPB42):c.1747G>T (p.Glu583Ter) rs115998465
NM_000119.2(EPB42):c.922+1G>A rs266257355
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln) rs121917734
NM_001114134.2(EPB42):c.10+6C>T
NM_001114134.2(EPB42):c.1025G>A (p.Gly342Asp) rs116484797
NM_001114134.2(EPB42):c.1075+14G>A rs775871506
NM_001114134.2(EPB42):c.1077C>T (p.Val359=) rs768178069
NM_001114134.2(EPB42):c.1097T>C (p.Val366Ala)
NM_001114134.2(EPB42):c.1195T>C (p.Cys399Arg) rs751034626
NM_001114134.2(EPB42):c.1213G>A (p.Glu405Lys)
NM_001114134.2(EPB42):c.1220C>T (p.Thr407Ile) rs886051166
NM_001114134.2(EPB42):c.1244G>C (p.Gly415Ala) rs753161252
NM_001114134.2(EPB42):c.1280G>A (p.Arg427His)
NM_001114134.2(EPB42):c.1315G>A (p.Glu439Lys)
NM_001114134.2(EPB42):c.1318+3A>G rs376358319
NM_001114134.2(EPB42):c.1345G>C (p.Glu449Gln)
NM_001114134.2(EPB42):c.1373G>A (p.Arg458His)
NM_001114134.2(EPB42):c.1386C>T (p.Asn462=) rs199505318
NM_001114134.2(EPB42):c.1564C>A (p.Leu522Ile)
NM_001114134.2(EPB42):c.1619-19C>T
NM_001114134.2(EPB42):c.1619A>G (p.Glu540Gly)
NM_001114134.2(EPB42):c.1682del (p.Phe561fs) rs775832353
NM_001114134.2(EPB42):c.1696G>A (p.Ala566Thr)
NM_001114134.2(EPB42):c.175del (p.Val59fs) rs266257354
NM_001114134.2(EPB42):c.1782G>A (p.Met594Ile)
NM_001114134.2(EPB42):c.1795G>A (p.Glu599Lys)
NM_001114134.2(EPB42):c.1852A>T (p.Met618Leu)
NM_001114134.2(EPB42):c.1887del (p.Leu630fs)
NM_001114134.2(EPB42):c.196+6T>A rs515726214
NM_001114134.2(EPB42):c.2044G>A (p.Val682Ile)
NM_001114134.2(EPB42):c.260G>A (p.Arg87Gln)
NM_001114134.2(EPB42):c.323C>T (p.Thr108Ile) rs2142314789
NM_001114134.2(EPB42):c.433G>T (p.Asp145Tyr) rs143682977
NM_001114134.2(EPB42):c.466A>G (p.Met156Val)
NM_001114134.2(EPB42):c.538G>C (p.Asp180His)
NM_001114134.2(EPB42):c.550-37_550-12dup rs368862301
NM_001114134.2(EPB42):c.718G>A (p.Ala240Thr)
NM_001114134.2(EPB42):c.860del (p.Arg287fs) rs515726213
NM_001114134.2(EPB42):c.872C>T (p.Thr291Met)
NM_001114134.2(EPB42):c.889G>A (p.Gly297Ser)
NM_001114134.2(EPB42):c.902G>A (p.Arg301His)
NM_001114134.2(EPB42):c.946G>A (p.Gly316Arg)
NM_001114134.2(EPB42):c.955C>A (p.Gln319Lys)
NM_001114134.2(EPB42):c.971+8G>A
NM_001114134.2(EPB42):c.971+8_971+9delinsAA rs2142290623
NM_001114134.2(EPB42):c.971+9C>A

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.