List of variants in gene KDM5C reported as pathogenic for Spastic paraplegia

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_004187.5(KDM5C):c.1180_1181del (p.Leu394fs)	rs2146921497
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu)	rs1057518697
NM_004187.5(KDM5C):c.1500_1515del (p.Leu502fs)
NM_004187.5(KDM5C):c.1762C>T (p.Gln588Ter)
NM_004187.5(KDM5C):c.1766del (p.Cys589fs)	rs2146868820
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter)	rs370032584
NM_004187.5(KDM5C):c.2064del (p.Ile689fs)	rs2146853021
NM_004187.5(KDM5C):c.2332C>T (p.Arg778Ter)	rs1556840029
NM_004187.5(KDM5C):c.2575C>T (p.Gln859Ter)	rs1556838661
NM_004187.5(KDM5C):c.2660del (p.Ala887fs)
NM_004187.5(KDM5C):c.2908C>T (p.Gln970Ter)	rs2146837810
NM_004187.5(KDM5C):c.3170del (p.Val1057fs)	rs2146828842
NM_004187.5(KDM5C):c.3358G>T (p.Glu1120Ter)
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)
NM_004187.5(KDM5C):c.3409_3410delinsT (p.Ala1137fs)
NM_004187.5(KDM5C):c.807dup (p.Thr270fs)	rs1569278313
NM_004187.5(KDM5C):c.974_975del (p.Tyr325fs)

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