ClinVar Miner

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

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001039590.2:c.3466_3879del
NM_001039591.3(USP9X):c.1315-4A>G rs1057522024
NM_001039591.3(USP9X):c.2602del (p.Tyr868fs) rs2147118205
NM_001039591.3(USP9X):c.2877+2T>C rs2147123290
NM_001039591.3(USP9X):c.323-1G>C rs5918118
NM_001039591.3(USP9X):c.5047C>T (p.Gln1683Ter) rs1555932766
NM_001039591.3(USP9X):c.5186A>G (p.His1729Arg) rs2147230302
NM_001039591.3(USP9X):c.5717C>T (p.Thr1906Ile) rs2147245804
NM_001039591.3(USP9X):c.671T>C (p.Leu224Pro)

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