List of variants in gene MED12 reported as likely pathogenic for central nervous system disorder

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: 25

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HGVS	dbSNP	gnomAD frequency
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala)	rs765417606	0.00009
NM_005120.3(MED12):c.617G>A (p.Arg206Gln)	rs2092288110	0.00001
NM_005120.3(MED12):c.100-2A>T
NM_005120.3(MED12):c.1248+3A>G	rs2147782173
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln)	rs1057519381
NM_005120.3(MED12):c.224G>C (p.Ser75Thr)	rs867655376
NM_005120.3(MED12):c.2546C>T (p.Ser849Phe)
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)	rs1057523906
NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser)	rs1602299778
NM_005120.3(MED12):c.3646G>A (p.Val1216Met)	rs2147805923
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys)	rs863223706
NM_005120.3(MED12):c.4048-1G>A	rs2092317530
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)	rs863223696
NM_005120.3(MED12):c.4439C>T (p.Pro1480Leu)
NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys)	rs727503868
NM_005120.3(MED12):c.4832G>A (p.Arg1611His)	rs1569482153
NM_005120.3(MED12):c.4863+1G>A
NM_005120.3(MED12):c.5025+1G>C
NM_005120.3(MED12):c.5400+2T>C	rs2147827179
NM_005120.3(MED12):c.5578C>T (p.Pro1860Ser)	rs2092334822
NM_005120.3(MED12):c.6211del (p.Gln2071fs)
NM_005120.3(MED12):c.6407A>G (p.Gln2136Arg)	rs2092347481
NM_005120.3(MED12):c.6408+1G>A	rs2092347488
NM_005120.3(MED12):c.6439C>A (p.Gln2147Lys)	rs863223699
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)	rs1556334519

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