List of variants in gene KDM5C reported as pathogenic for Inborn genetic diseases

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_004187.5(KDM5C):c.147del (p.Ala50fs)	rs2519628292
NM_004187.5(KDM5C):c.202C>T (p.Arg68Ter)	rs2519599338
NM_004187.5(KDM5C):c.2275_2276dup (p.Met759fs)	rs2519417240
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter)	rs1135401800
NM_004187.5(KDM5C):c.2575C>T (p.Gln859Ter)	rs1556838661
NM_004187.5(KDM5C):c.2770C>T (p.Gln924Ter)	rs1556837420
NM_004187.5(KDM5C):c.2785C>T (p.Arg929Ter)	rs782405999
NM_004187.5(KDM5C):c.3058C>T (p.Gln1020Ter)	rs1556836399
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)	rs1602163752
NM_004187.5(KDM5C):c.3692del (p.Pro1231fs)	rs2519374784
NM_004187.5(KDM5C):c.3835C>T (p.Gln1279Ter)	rs2146820641
NM_004187.5(KDM5C):c.3863G>A (p.Trp1288Ter)

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