List of variants in gene USP9X reported as pathogenic for X-linked syndromic intellectual disability

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_001039591.3(USP9X):c.1111C>T (p.Arg371Ter)	rs869025592
NM_001039591.3(USP9X):c.1812_1815del (p.Gln605fs)	rs2147080697
NM_001039591.3(USP9X):c.1840_1843del (p.Thr614fs)	rs2147080766
NM_001039591.3(USP9X):c.2281dup (p.Tyr761fs)
NM_001039591.3(USP9X):c.2554C>T (p.Arg852Ter)	rs869025588
NM_001039591.3(USP9X):c.2644_2645insA (p.Arg882fs)	rs869025590
NM_001039591.3(USP9X):c.3028-2A>G	rs869025589
NM_001039591.3(USP9X):c.323-1G>A
NM_001039591.3(USP9X):c.3763C>T (p.Gln1255Ter)	rs869025591
NM_001039591.3(USP9X):c.4135_4136del (p.Leu1379fs)
NM_001039591.3(USP9X):c.44del (p.Asn15fs)	rs1555917927
NM_001039591.3(USP9X):c.4756del (p.Ala1587fs)	rs1555930128
NM_001039591.3(USP9X):c.52C>T (p.Gln18Ter)	rs2062209732
NM_001039591.3(USP9X):c.6004C>T (p.Arg2002Ter)	rs2063213305
NM_001039591.3(USP9X):c.6458dup (p.Ser2153fs)	rs2063238551
NM_001039591.3(USP9X):c.6547del (p.Phe2182_Val2183insTer)
NM_001039591.3(USP9X):c.6679_6685delinsTCCTG (p.Lys2227_Tyr2229delinsSerTer)	rs2147262405
NM_001039591.3(USP9X):c.6991dup (p.Tyr2331fs)	rs2147266578
NM_001039591.3(USP9X):c.7096C>T (p.Arg2366Ter)

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