List of variants in gene MED12 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_005120.3(MED12):c.1033C>T (p.Pro345Ser)	rs761157306	0.00005
NM_005120.3(MED12):c.3721A>G (p.Thr1241Ala)	rs1028631372	0.00004
NM_005120.3(MED12):c.5585G>A (p.Arg1862His)	rs773713291	0.00002
NM_005120.3(MED12):c.5653G>A (p.Val1885Ile)	rs762659794	0.00002
NM_005120.3(MED12):c.1996A>G (p.Met666Val)	rs1401003961	0.00001
NM_005120.3(MED12):c.1745-3C>T	rs1602296746
NM_005120.3(MED12):c.1926T>A (p.Asp642Glu)
NM_005120.3(MED12):c.1994C>T (p.Ser665Phe)	rs764981858
NM_005120.3(MED12):c.2320A>G (p.Ile774Val)	rs2147793183
NM_005120.3(MED12):c.4355A>C (p.Glu1452Ala)	rs2092319925
NM_005120.3(MED12):c.4400G>A (p.Arg1467Gln)	rs1488533087
NM_005120.3(MED12):c.4415+3A>G	rs1602301683
NM_005120.3(MED12):c.4684C>T (p.Leu1562=)
NM_005120.3(MED12):c.5922G>T (p.Gln1974His)	rs879255528
NM_005120.3(MED12):c.6037A>G (p.Thr2013Ala)	rs777453338
NM_005120.3(MED12):c.6109G>A (p.Gly2037Ser)
NM_005120.3(MED12):c.734A>G (p.Gln245Arg)	rs1569480972

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