List of variants in gene MED13 reported as pathogenic for not provided

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_005121.3(MED13):c.1034G>A (p.Trp345Ter)
NM_005121.3(MED13):c.125del (p.Pro42fs)	rs1603410966
NM_005121.3(MED13):c.1745T>A (p.Leu582Ter)	rs780070113
NM_005121.3(MED13):c.1864A>T (p.Lys622Ter)	rs1567975588
NM_005121.3(MED13):c.2501A>G (p.Tyr834Cys)
NM_005121.3(MED13):c.2503C>T (p.Pro835Ser)
NM_005121.3(MED13):c.3005_3008del (p.Pro1002fs)	rs1603396835
NM_005121.3(MED13):c.3465_3466del (p.Cys1155fs)	rs2143459289
NM_005121.3(MED13):c.3889del (p.Arg1297fs)	rs1603394630
NM_005121.3(MED13):c.4685_4689dup (p.Met1564fs)	rs1603392856
NM_005121.3(MED13):c.5149del (p.Ser1717fs)	rs1603392097
NM_005121.3(MED13):c.5161C>T (p.Gln1721Ter)	rs1044065786
NM_005121.3(MED13):c.5627G>A (p.Trp1876Ter)	rs1567940265
NM_005121.3(MED13):c.6160dup (p.Glu2054fs)	rs2143288270

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