List of variants in gene KDM5C reported as pathogenic for Syndromic X-linked intellectual disability Claes-Jensen type

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: 40

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HGVS	dbSNP	gnomAD frequency
NM_004187.5(KDM5C):c.1660C>A (p.Pro554Thr)	rs387906729	0.00001
NM_004187.5(KDM5C):c.2296C>T (p.Arg766Trp)	rs199422238	0.00001
G384D
NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro)	rs199422235
NM_004187.5(KDM5C):c.12dup (p.Ser5fs)	rs2146978931
NM_004187.5(KDM5C):c.1353C>G (p.Ser451Arg)	rs199422237
NM_004187.5(KDM5C):c.1361_1362del (p.Pro454fs)	rs2146919819
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu)	rs1057518697
NM_004187.5(KDM5C):c.156G>T (p.Trp52Cys)	rs886037836
NM_004187.5(KDM5C):c.1592C>T (p.Pro531Leu)
NM_004187.5(KDM5C):c.1616C>G (p.Ser539Ter)	rs2146914606
NM_004187.5(KDM5C):c.1866G>A (p.Trp622Ter)	rs1602183619
NM_004187.5(KDM5C):c.202dup (p.Arg68fs)	rs782600511
NM_004187.5(KDM5C):c.2080C>T (p.Arg694Ter)	rs199422236
NM_004187.5(KDM5C):c.2116C>T (p.Gln706Ter)	rs2146852767
NM_004187.5(KDM5C):c.2172C>A (p.Cys724Ter)	rs281860639
NM_004187.5(KDM5C):c.2191C>T (p.Leu731Phe)	rs199422234
NM_004187.5(KDM5C):c.2214C>A (p.Cys738Ter)	rs2519418774
NM_004187.5(KDM5C):c.229G>A (p.Ala77Thr)	rs199422239
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter)	rs1135401800
NM_004187.5(KDM5C):c.2517_2622del	rs2146844343
NM_004187.5(KDM5C):c.2622+2dup	rs1057519393
NM_004187.5(KDM5C):c.2704C>T (p.Gln902Ter)	rs2146839603
NM_004187.5(KDM5C):c.2813_2816dup (p.Pro940fs)	rs2519397716
NM_004187.5(KDM5C):c.2908C>T (p.Gln970Ter)	rs2146837810
NM_004187.5(KDM5C):c.2993del (p.Pro998fs)	rs2519391305
NM_004187.5(KDM5C):c.3058C>T (p.Gln1020Ter)	rs1556836399
NM_004187.5(KDM5C):c.3118C>T (p.Gln1040Ter)	rs782246658
NM_004187.5(KDM5C):c.3244dup (p.Arg1082fs)	rs1934751829
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)	rs1602163752
NM_004187.5(KDM5C):c.3570_3573del (p.Gly1191fs)	rs1569258293
NM_004187.5(KDM5C):c.3597_3601del (p.Leu1200fs)	rs1131692227
NM_004187.5(KDM5C):c.3624G>A (p.Trp1208Ter)	rs2519375513
NM_004187.5(KDM5C):c.3749C>G (p.Ser1250Ter)	rs782454131
NM_004187.5(KDM5C):c.3895G>T (p.Glu1299Ter)	rs1934657828
NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter)	rs1556852362
NM_004187.5(KDM5C):c.769_770del (p.Leu257fs)	rs1060499661
NM_004187.5(KDM5C):c.807del (p.Thr270fs)	rs1569278313
NM_004187.5(KDM5C):c.994C>T (p.Arg332Ter)	rs2146934865
NM_004187.5(KDM5C):c.997G>C (p.Gly333Arg)	rs2146934832

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