List of variants in gene MED12 reported as likely pathogenic for not provided

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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: 19

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HGVS	dbSNP	gnomAD frequency
NM_005120.3(MED12):c.4265G>A (p.Arg1422His)	rs1255849432	0.00001
NM_005120.3(MED12):c.1249-2A>G
NM_005120.3(MED12):c.1273dup (p.Glu425fs)	rs1556334780
NM_005120.3(MED12):c.1861C>T (p.Arg621Ter)	rs2147789622
NM_005120.3(MED12):c.3063C>A (p.Phe1021Leu)	rs797045698
NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser)	rs1602299778
NM_005120.3(MED12):c.3662T>C (p.Phe1221Ser)
NM_005120.3(MED12):c.3691+2dup
NM_005120.3(MED12):c.3884G>A (p.Arg1295His)	rs1556337063
NM_005120.3(MED12):c.3956G>A (p.Arg1319His)	rs1421325265
NM_005120.3(MED12):c.3968T>C (p.Leu1323Pro)	rs1556337085
NM_005120.3(MED12):c.397-12A>G	rs192515277
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg)	rs794727576
NM_005120.3(MED12):c.4832G>A (p.Arg1611His)	rs1569482153
NM_005120.3(MED12):c.5179C>T (p.His1727Tyr)
NM_005120.3(MED12):c.5898dup (p.Ser1967fs)	rs879255527
NM_005120.3(MED12):c.6418C>T (p.Gln2140Ter)	rs2147844739
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro)	rs1085307941
NM_005120.3(MED12):c.93G>C (p.Gln31His)	rs1057521988

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