ClinVar Miner

List of variants in gene EPB42 reported as uncertain significance by Revvity Omics, Revvity

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001114134.2(EPB42):c.581G>A (p.Arg194His) rs146348439 0.00048
NM_001114134.2(EPB42):c.953G>T (p.Gly318Val) rs143974871 0.00042
NM_001114134.2(EPB42):c.2032A>G (p.Asn678Asp) rs201674874 0.00041
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.1124C>T (p.Thr375Met) rs115972761 0.00009
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys) rs515726212 0.00009
NM_001114134.2(EPB42):c.353C>T (p.Ser118Leu) rs200509497 0.00008
NM_001114134.2(EPB42):c.1696G>A (p.Ala566Thr) rs376680136 0.00007
NM_001114134.2(EPB42):c.620A>G (p.Gln207Arg) rs758323919 0.00007
NM_001114134.2(EPB42):c.1007G>A (p.Arg336Gln) rs374503872 0.00006
NM_001114134.2(EPB42):c.1373G>A (p.Arg458His) rs116008388 0.00006
NM_001114134.2(EPB42):c.1564C>A (p.Leu522Ile) rs145590461 0.00005
NM_001114134.2(EPB42):c.1795G>A (p.Glu599Lys) rs767168117 0.00005
NM_001114134.2(EPB42):c.712G>C (p.Glu238Gln) rs886051168 0.00004
NM_001114134.2(EPB42):c.1213G>A (p.Glu405Lys) rs774953913 0.00003
NM_001114134.2(EPB42):c.902G>A (p.Arg301His) rs768219449 0.00003
NM_001114134.2(EPB42):c.1097T>C (p.Val366Ala) rs1008007599 0.00001
NM_001114134.2(EPB42):c.1315G>A (p.Glu439Lys) rs1371405183 0.00001
NM_001114134.2(EPB42):c.1782G>A (p.Met594Ile) rs551989402 0.00001
NM_001114134.2(EPB42):c.308C>A (p.Thr103Asn) rs1374938976 0.00001
NM_001114134.2(EPB42):c.466A>G (p.Met156Val) rs748741988 0.00001
NM_001114134.2(EPB42):c.830C>T (p.Thr277Ile) rs515726211 0.00001
NM_001114134.2(EPB42):c.946G>A (p.Gly316Arg) rs368009876 0.00001
NM_001114134.2(EPB42):c.955C>A (p.Gln319Lys) rs763139927 0.00001
NM_001114134.2(EPB42):c.10+6C>T rs200354161
NM_001114134.2(EPB42):c.1619A>G (p.Glu540Gly) rs377523204
NM_001114134.2(EPB42):c.1852A>T (p.Met618Leu) rs745934000
NM_001114134.2(EPB42):c.260G>A (p.Arg87Gln) rs370209252
NM_001114134.2(EPB42):c.538G>C (p.Asp180His) rs2542519610
NM_001114134.2(EPB42):c.718G>A (p.Ala240Thr) rs1054393668
NM_001114134.2(EPB42):c.889G>A (p.Gly297Ser) rs2542500196

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