ClinVar Miner

List of variants in gene MED12 studied for not provided

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Gene type:
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Total variants: 102
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HGVS dbSNP
NC_000023.11:g.71118268G>A
NC_000023.11:g.71118549A>G
NC_000023.11:g.71119648C>T
NC_000023.11:g.71132567T>C
NC_000023.11:g.71140611C>T
NM_005120.2(MED12):c.4416-20_4416-16dupCTTCT rs56658066
NM_005120.2(MED12):c.6300_6329del30 (p.Gln2106_Gln2115del) rs773480549
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879
NM_005120.3(MED12):c.1102-136G>A
NM_005120.3(MED12):c.1113G>A (p.Leu371=)
NM_005120.3(MED12):c.1248+15T>C rs187377817
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) rs368913305
NM_005120.3(MED12):c.1273dup (p.Glu425fs) rs1556334780
NM_005120.3(MED12):c.1416C>T (p.Asp472=) rs1569481100
NM_005120.3(MED12):c.1485+96A>G
NM_005120.3(MED12):c.1547G>A (p.Arg516His) rs1556334969
NM_005120.3(MED12):c.1660G>A (p.Ala554Thr) rs863223709
NM_005120.3(MED12):c.1682C>T (p.Pro561Leu) rs766485358
NM_005120.3(MED12):c.1732G>C (p.Ala578Pro) rs1131691350
NM_005120.3(MED12):c.1744+51A>G
NM_005120.3(MED12):c.1754G>A (p.Arg585Gln) rs747113641
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala) rs765417606
NM_005120.3(MED12):c.1892C>T (p.Pro631Leu) rs1057524167
NM_005120.3(MED12):c.1974+93G>C
NM_005120.3(MED12):c.2056-63G>T
NM_005120.3(MED12):c.2093G>A (p.Ser698Asn) rs863223710
NM_005120.3(MED12):c.2252A>G (p.Asn751Ser) rs863223700
NM_005120.3(MED12):c.2422+120T>G
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160
NM_005120.3(MED12):c.272G>T (p.Arg91Leu) rs1057524478
NM_005120.3(MED12):c.2750G>A (p.Ser917Asn) rs1556336129
NM_005120.3(MED12):c.2849+14C>T rs398124196
NM_005120.3(MED12):c.3063C>A (p.Phe1021Leu) rs797045698
NM_005120.3(MED12):c.3210G>T (p.Arg1070Ser) rs863223704
NM_005120.3(MED12):c.3219C>T (p.Asp1073=) rs1266845318
NM_005120.3(MED12):c.3354+54G>A
NM_005120.3(MED12):c.3354+6A>G rs770027742
NM_005120.3(MED12):c.3355-16C>G
NM_005120.3(MED12):c.3667G>A (p.Val1223Ile) rs1057524217
NM_005120.3(MED12):c.369C>T (p.Thr123=)
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys) rs202120461
NM_005120.3(MED12):c.3797G>A (p.Arg1266His) rs587780391
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318
NM_005120.3(MED12):c.3844G>A (p.Val1282Met) rs398124197
NM_005120.3(MED12):c.3868-7T>A rs587780392
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys) rs863223706
NM_005120.3(MED12):c.3918C>T (p.Asp1306=)
NM_005120.3(MED12):c.3928_3930delinsTCC (p.Pro1310Ser) rs863223712
NM_005120.3(MED12):c.3968T>C (p.Leu1323Pro) rs1556337085
NM_005120.3(MED12):c.397-12A>G rs192515277
NM_005120.3(MED12):c.4009G>A (p.Glu1337Lys) rs1057520129
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp) rs777250096
NM_005120.3(MED12):c.4047+223A>G
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser) rs202009066
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val) rs1366165823
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn) rs759532414
NM_005120.3(MED12):c.4265G>A (p.Arg1422His) rs1255849432
NM_005120.3(MED12):c.4372G>C (p.Gly1458Arg) rs863223698
NM_005120.3(MED12):c.4415+128A>G
NM_005120.3(MED12):c.4416-77CTCTT[16] rs56658066
NM_005120.3(MED12):c.4428G>A (p.Leu1476=)
NM_005120.3(MED12):c.4620G>A (p.Val1540=) rs756385578
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg) rs794727576
NM_005120.3(MED12):c.473G>A (p.Trp158Ter) rs1556334114
NM_005120.3(MED12):c.4831C>G (p.Arg1611Gly) rs727503868
NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys) rs727503868
NM_005120.3(MED12):c.4880G>A (p.Arg1627His) rs759857680
NM_005120.3(MED12):c.4971T>C (p.Leu1657=) rs398124198
NM_005120.3(MED12):c.5025+156_5025+157del
NM_005120.3(MED12):c.5026-189G>C
NM_005120.3(MED12):c.5026-249A>T
NM_005120.3(MED12):c.5125C>T (p.Arg1709Ter) rs886041581
NM_005120.3(MED12):c.5135_5138dup (p.Val1714fs) rs1556338764
NM_005120.3(MED12):c.5316G>A (p.Pro1772=) rs398124199
NM_005120.3(MED12):c.5400+6C>T rs192656109
NM_005120.3(MED12):c.5401-87T>C
NM_005120.3(MED12):c.553+302C>G
NM_005120.3(MED12):c.554-83A>G
NM_005120.3(MED12):c.5563G>A (p.Val1855Met) rs1085307774
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926
NM_005120.3(MED12):c.5709T>A (p.Pro1903=)
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107
NM_005120.3(MED12):c.5920C>T (p.Gln1974Ter) rs1569482431
NM_005120.3(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_005120.3(MED12):c.5957A>C (p.Asp1986Ala) rs1064796982
NM_005120.3(MED12):c.6121G>A (p.Gly2041Ser) rs901541873
NM_005120.3(MED12):c.6139A>G (p.Ile2047Val) rs748668603
NM_005120.3(MED12):c.6177_6182ACAGCA[1] (p.Gln2075_Gln2076del)
NM_005120.3(MED12):c.6235A>G (p.Ile2079Val) rs200820997
NM_005120.3(MED12):c.6285A>G (p.Gln2095=) rs794727673
NM_005120.3(MED12):c.6288_6290GCA[9] (p.Gln2114_Gln2115dup) rs766775649
NM_005120.3(MED12):c.6309_6314ACAGCA[3] (p.Gln2114_Gln2115dup) rs764789036
NM_005120.3(MED12):c.6409-114T>C
NM_005120.3(MED12):c.6409-125T>C
NM_005120.3(MED12):c.6422G>A (p.Gly2141Glu) rs1556340261
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro) rs1085307941
NM_005120.3(MED12):c.6491-58G>A
NM_005120.3(MED12):c.6526C>T (p.Arg2176Cys) rs777818556
NM_005120.3(MED12):c.653C>T (p.Thr218Met) rs369083173
NM_005120.3(MED12):c.734A>G (p.Gln245Arg) rs1569480972
NM_005120.3(MED12):c.93G>C (p.Gln31His) rs1057521988

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