ClinVar Miner

List of variants in gene MED12 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_005120.2(MED12):c.1264C>T (p.Arg422Trp) rs368913305
NM_005120.2(MED12):c.1416C>T (p.Asp472=)
NM_005120.2(MED12):c.2613G>A (p.Gln871=) rs372344160
NM_005120.2(MED12):c.2849+14C>T rs398124196
NM_005120.2(MED12):c.3219C>T (p.Asp1073=) rs1266845318
NM_005120.2(MED12):c.3354+6A>G rs770027742
NM_005120.2(MED12):c.369C>T (p.Thr123=)
NM_005120.2(MED12):c.3797G>A (p.Arg1266His) rs587780391
NM_005120.2(MED12):c.381G>A (p.Thr127=) rs202125318
NM_005120.2(MED12):c.3844G>A (p.Val1282Met) rs398124197
NM_005120.2(MED12):c.4416-20_4416-16dupCTTCT rs56658066
NM_005120.2(MED12):c.4416-35_4416-16dup20 rs56658066
NM_005120.2(MED12):c.4620G>A (p.Val1540=) rs756385578
NM_005120.2(MED12):c.4831C>G (p.Arg1611Gly) rs727503868
NM_005120.2(MED12):c.4971T>C (p.Leu1657=) rs398124198
NM_005120.2(MED12):c.5316G>A (p.Pro1772=) rs398124199
NM_005120.2(MED12):c.5400+6C>T rs192656109
NM_005120.2(MED12):c.6285A>G (p.Gln2095=) rs794727673
NM_005120.2(MED12):c.6308_6309insGCAGCA (p.Gln2115_His2116insGlnGln) rs766775649
NM_005120.2(MED12):c.653C>T (p.Thr218Met) rs369083173

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