List of variants in gene CHAMP1 reported as pathogenic for intellectual disability, autosomal dominant 40

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_032436.4(CHAMP1):c.1002G>A (p.Trp334Ter)	rs879255261
NM_032436.4(CHAMP1):c.1043G>A (p.Trp348Ter)	rs2139420056
NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter)	rs797044962
NM_032436.4(CHAMP1):c.1692dup (p.Lys565fs)	rs2139421634
NM_032436.4(CHAMP1):c.1741del (p.Glu581fs)	rs2139421763
NM_032436.4(CHAMP1):c.1768C>T (p.Gln590Ter)	rs200070245
NM_032436.4(CHAMP1):c.1858A>T (p.Lys620Ter)	rs2087240702
NM_032436.4(CHAMP1):c.1866_1867del (p.Asp622fs)	rs797044963
NM_032436.4(CHAMP1):c.1876_1877del (p.Ser626fs)	rs2139422092
NM_032436.4(CHAMP1):c.1995dup (p.Ser666Ter)	rs2139422391
NM_032436.4(CHAMP1):c.2000_2001del (p.Lys667fs)
NM_032436.4(CHAMP1):c.2068_2069del (p.Glu690fs)
NM_032436.4(CHAMP1):c.530_532delinsTTT (p.Ser177_Lys178delinsPheTer)	rs2139418772
NM_032436.4(CHAMP1):c.635del (p.Pro212fs)	rs797044961
NM_032436.4(CHAMP1):c.647_649dup (p.Ser217Ter)	rs2139419099
NM_032436.4(CHAMP1):c.959dup (p.Pro320_Arg321insTer)	rs2139419839

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