List of variants in gene MED12 reported as pathogenic by OMIM

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)	rs80338758
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser)	rs80338759
NM_005120.3(MED12):c.3443G>A (p.Arg1148His)	rs387907360
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro)	rs387907361
NM_005120.3(MED12):c.4903_4906delinsCCAGCA (p.Val1635fs)	rs2147823333
NM_005120.3(MED12):c.5111G>A (p.Trp1704Ter)	rs2147826070
NM_005120.3(MED12):c.5185C>A (p.His1729Asn)	rs387907362
NM_005120.3(MED12):c.5622C>A (p.Tyr1874Ter)	rs2147829167
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro)	rs1085307941

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