List of variants in gene KDM5C reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 4

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 Xp11.22(chrX:53253922-53254071)x0
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu)	rs1057518697
NM_004187.5(KDM5C):c.2821del (p.Ser941fs)
NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter)	rs1556852362

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