ClinVar Miner

List of variants in gene EPB42 reported as uncertain significance for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
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.430+12C>T rs185794093 0.00155
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.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.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.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_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.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.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.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.196+6T>A rs515726214
NM_001114134.2(EPB42):c.260G>A (p.Arg87Gln)
NM_001114134.2(EPB42):c.466A>G (p.Met156Val)
NM_001114134.2(EPB42):c.538G>C (p.Asp180His)
NM_001114134.2(EPB42):c.718G>A (p.Ala240Thr)
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+9C>A

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