ClinVar Miner

List of variants in gene MED23 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_004830.4(MED23):c.4080G>T (p.Val1360=) rs138742804 0.00342
NM_004830.4(MED23):c.3742G>A (p.Val1248Ile) rs144470678 0.00150
NM_004830.4(MED23):c.368G>A (p.Arg123Gln) rs145843297 0.00071
NM_004830.4(MED23):c.3860A>G (p.His1287Arg) rs150598354 0.00040
NM_004830.4(MED23):c.3854G>C (p.Ser1285Thr) rs139398917 0.00038
NM_004830.4(MED23):c.780+4T>A rs371587600 0.00016
NM_004830.4(MED23):c.124G>A (p.Gly42Arg) rs372152291 0.00007
NM_004830.4(MED23):c.3410T>A (p.Val1137Glu) rs758932839 0.00006
NM_004830.4(MED23):c.367C>T (p.Arg123Trp) rs374403178 0.00006
NM_004830.4(MED23):c.4083C>T (p.Pro1361=) rs545346431 0.00005
NM_004830.4(MED23):c.285-3T>C rs892805085 0.00004
NM_004830.4(MED23):c.3565C>T (p.Arg1189Cys) rs760234442 0.00004
NM_004830.4(MED23):c.3695C>G (p.Thr1232Ser) rs750134866 0.00004
NM_004830.4(MED23):c.3566G>A (p.Arg1189His) rs146599947 0.00003
NM_004830.4(MED23):c.3724G>A (p.Glu1242Lys) rs148431716 0.00003
NM_004830.4(MED23):c.3963A>T (p.Leu1321Phe) rs755207439 0.00003
NM_004830.4(MED23):c.452C>G (p.Thr151Arg) rs143799081 0.00003
NM_004830.4(MED23):c.230C>A (p.Ser77Tyr) rs1203989602 0.00002
NM_004830.4(MED23):c.4013T>C (p.Met1338Thr) rs771693452 0.00002
NM_004830.4(MED23):c.1367+4A>G rs555623460 0.00001
NM_004830.4(MED23):c.1706G>A (p.Arg569His) rs779186762 0.00001
NM_004830.4(MED23):c.2119A>G (p.Ile707Val) rs769895441 0.00001
NM_004830.4(MED23):c.2354C>T (p.Ser785Phe) rs924609151 0.00001
NM_004830.4(MED23):c.2441T>C (p.Ile814Thr) rs922889806 0.00001
NM_004830.4(MED23):c.2577T>G (p.Ile859Met) rs761515957 0.00001
NM_004830.4(MED23):c.2813C>T (p.Ala938Val) rs776987373 0.00001
NM_004830.4(MED23):c.3233C>T (p.Thr1078Met) rs758623991 0.00001
NM_004830.4(MED23):c.3424A>T (p.Ile1142Phe) rs1213351118 0.00001
NM_004830.4(MED23):c.3533C>T (p.Thr1178Met) rs909543659 0.00001
NM_004830.4(MED23):c.3583G>A (p.Ala1195Thr) rs1774624599 0.00001
NM_004830.4(MED23):c.3701T>C (p.Val1234Ala) rs944035388 0.00001
NM_004830.4(MED23):c.3980T>G (p.Leu1327Arg) rs751590798 0.00001
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys) rs766478634 0.00001
NM_004830.4(MED23):c.4014G>A (p.Met1338Ile) rs1285502310 0.00001
NM_004830.4(MED23):c.4073A>T (p.Asn1358Ile) rs1227367080 0.00001
NM_004830.4(MED23):c.538G>C (p.Ala180Pro) rs758016148 0.00001
NM_004830.4(MED23):c.89C>A (p.Pro30His) rs376715175 0.00001
NM_004830.4(MED23):c.967G>A (p.Asp323Asn) rs867833249 0.00001
NM_004830.4(MED23):c.973G>A (p.Gly325Arg) rs754894802 0.00001
NM_004830.4(MED23):c.157C>G (p.Gln53Glu) rs2482929542
NM_004830.4(MED23):c.1675T>G (p.Leu559Val) rs1185543385
NM_004830.4(MED23):c.1705C>T (p.Arg569Cys)
NM_004830.4(MED23):c.1708T>G (p.Leu570Val) rs1775691162
NM_004830.4(MED23):c.1810C>T (p.Leu604Phe) rs2482632718
NM_004830.4(MED23):c.1844T>C (p.Ile615Thr) rs2482632234
NM_004830.4(MED23):c.191T>C (p.Val64Ala) rs111843376
NM_004830.4(MED23):c.2000G>T (p.Arg667Leu)
NM_004830.4(MED23):c.203A>G (p.His68Arg) rs2482901166
NM_004830.4(MED23):c.2062A>G (p.Ile688Val)
NM_004830.4(MED23):c.2149C>G (p.Gln717Glu) rs1562380913
NM_004830.4(MED23):c.2213C>G (p.Pro738Arg) rs2482591371
NM_004830.4(MED23):c.2359C>A (p.Pro787Thr)
NM_004830.4(MED23):c.245G>T (p.Cys82Phe)
NM_004830.4(MED23):c.259G>A (p.Val87Ile) rs1240644437
NM_004830.4(MED23):c.265A>G (p.Thr89Ala) rs753098747
NM_004830.4(MED23):c.2696G>A (p.Arg899Gln)
NM_004830.4(MED23):c.2756C>G (p.Thr919Ser)
NM_004830.4(MED23):c.2848C>G (p.Pro950Ala) rs2482537644
NM_004830.4(MED23):c.2907A>G (p.Ile969Met)
NM_004830.4(MED23):c.293G>T (p.Cys98Phe) rs748302973
NM_004830.4(MED23):c.2998C>T (p.Arg1000Cys) rs866726564
NM_004830.4(MED23):c.3011A>G (p.Tyr1004Cys)
NM_004830.4(MED23):c.3035A>G (p.Tyr1012Cys) rs759820372
NM_004830.4(MED23):c.3058G>A (p.Ala1020Thr) rs773757521
NM_004830.4(MED23):c.3088A>G (p.Ile1030Val) rs1196010450
NM_004830.4(MED23):c.3126G>T (p.Trp1042Cys)
NM_004830.4(MED23):c.3326G>C (p.Cys1109Ser)
NM_004830.4(MED23):c.3364G>A (p.Val1122Ile)
NM_004830.4(MED23):c.3371A>G (p.Asn1124Ser)
NM_004830.4(MED23):c.3428C>G (p.Thr1143Arg)
NM_004830.4(MED23):c.3463G>A (p.Ala1155Thr)
NM_004830.4(MED23):c.3554G>A (p.Gly1185Asp) rs1774626763
NM_004830.4(MED23):c.356T>A (p.Phe119Tyr) rs2482882031
NM_004830.4(MED23):c.3704TTC[1] (p.Leu1236del) rs761312695
NM_004830.4(MED23):c.3721A>T (p.Thr1241Ser)
NM_004830.4(MED23):c.3739T>C (p.Tyr1247His)
NM_004830.4(MED23):c.3793C>T (p.Arg1265Cys)
NM_004830.4(MED23):c.3951T>G (p.Ile1317Met) rs752861667
NM_004830.4(MED23):c.3967C>A (p.Pro1323Thr) rs1420002903
NM_004830.4(MED23):c.4076A>C (p.Gln1359Pro) rs765709336
NM_004830.4(MED23):c.421A>G (p.Ile141Val) rs2482866158
NM_004830.4(MED23):c.484G>A (p.Ala162Thr)
NM_004830.4(MED23):c.505T>C (p.Tyr169His)
NM_004830.4(MED23):c.539C>A (p.Ala180Asp) rs2114756866
NM_004830.4(MED23):c.667G>A (p.Gly223Ser) rs2482839641
NM_004830.4(MED23):c.721T>C (p.Trp241Arg) rs748834850
NM_004830.4(MED23):c.745C>T (p.Arg249Cys)

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