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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_005120.3(MED12):c.6097A>G (p.Met2033Val)	rs372606012	0.00006
NM_005120.3(MED12):c.2849+14C>T	rs398124196	0.00003
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)	rs368913305	0.00002
NM_005120.3(MED12):c.439G>A (p.Ala147Thr)	rs748453083	0.00002
NM_005120.3(MED12):c.6076A>G (p.Met2026Val)	rs1294140756	0.00002
NM_005120.3(MED12):c.6267+166G>A	rs1247198443	0.00002
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)	rs752300879	0.00001
NM_005120.3(MED12):c.1996A>G (p.Met666Val)	rs1401003961	0.00001
NM_005120.3(MED12):c.3210-27C>T	rs752463122	0.00001
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val)	rs1366165823	0.00001
NM_005120.3(MED12):c.1102-6T>C
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)
NM_005120.3(MED12):c.2545T>C (p.Ser849Pro)	rs1135401775
NM_005120.3(MED12):c.272G>T (p.Arg91Leu)	rs1057524478
NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu)	rs2092313149
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)	rs863223696
NM_005120.3(MED12):c.4413G>A (p.Lys1471=)	rs2092320033
NM_005120.3(MED12):c.5017AAG[1] (p.Lys1674del)
NM_005120.3(MED12):c.5165G>A (p.Arg1722Gln)
NM_005120.3(MED12):c.5310C>A (p.Asp1770Glu)
NM_005120.3(MED12):c.6017A>G (p.Tyr2006Cys)
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del)	rs767827315
NM_005120.3(MED12):c.628G>C (p.Ala210Pro)	rs1379201163
NM_005120.3(MED12):c.6472C>A (p.Leu2158Ile)	rs2147844978
NM_005120.3(MED12):c.823C>G (p.Leu275Val)	rs2147778826

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