ClinVar Miner

List of variants in gene MED12 reported as uncertain significance for Ohdo syndrome and variants

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) rs368913305
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe) rs1307587368
NM_005120.3(MED12):c.2545T>C (p.Ser849Pro) rs1135401775
NM_005120.3(MED12):c.3210-27C>T rs752463122
NM_005120.3(MED12):c.5017_5019AAG[1] (p.Lys1674del)
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del) rs767827315
NM_005120.3(MED12):c.6267+166G>A rs1247198443
NM_005120.3(MED12):c.628G>C (p.Ala210Pro) rs1379201163

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