ClinVar Miner

List of variants in gene USP9X studied for syndromic intellectual disability

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001039591.3(USP9X):c.3558+16T>C rs5918130 0.27842
NM_001039591.3(USP9X):c.3028-7A>G rs115310559 0.00514
NM_001039591.3(USP9X):c.4163A>G (p.Asn1388Ser) rs369178019 0.00019
NM_001039591.3(USP9X):c.4657C>A (p.Pro1553Thr) rs375616476 0.00003
NM_001039591.3(USP9X):c.167C>G (p.Ala56Gly) rs866511878 0.00002
NM_001039590.2:c.3466_3879del
NM_001039591.3(USP9X):c.1081G>A (p.Val361Met)
NM_001039591.3(USP9X):c.1090A>G (p.Ser364Gly)
NM_001039591.3(USP9X):c.1111C>T (p.Arg371Ter) rs869025592
NM_001039591.3(USP9X):c.1140G>A (p.Trp380Ter) rs886041595
NM_001039591.3(USP9X):c.1315-284G>T
NM_001039591.3(USP9X):c.1315-4A>G rs1057522024
NM_001039591.3(USP9X):c.1738_1741del (p.Phe580fs)
NM_001039591.3(USP9X):c.1782C>G (p.Pro594=) rs2062543205
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.2089T>C (p.Cys697Arg)
NM_001039591.3(USP9X):c.2276G>A (p.Arg759Lys)
NM_001039591.3(USP9X):c.2281dup (p.Tyr761fs)
NM_001039591.3(USP9X):c.2284A>G (p.Met762Val)
NM_001039591.3(USP9X):c.2350del (p.Asp784fs)
NM_001039591.3(USP9X):c.2554C>T (p.Arg852Ter) rs869025588
NM_001039591.3(USP9X):c.2602del (p.Tyr868fs) rs2147118205
NM_001039591.3(USP9X):c.2633C>T (p.Ser878Leu)
NM_001039591.3(USP9X):c.2644_2645insA (p.Arg882fs) rs869025590
NM_001039591.3(USP9X):c.2746C>T (p.Arg916Ter)
NM_001039591.3(USP9X):c.2877+2T>C rs2147123290
NM_001039591.3(USP9X):c.2969A>G (p.His990Arg)
NM_001039591.3(USP9X):c.3022G>T (p.Gly1008Ter)
NM_001039591.3(USP9X):c.3027+5G>T rs2147124048
NM_001039591.3(USP9X):c.3028-2A>G rs869025589
NM_001039591.3(USP9X):c.3061C>G (p.Leu1021Val)
NM_001039591.3(USP9X):c.323-1G>A
NM_001039591.3(USP9X):c.323-1G>C rs5918118
NM_001039591.3(USP9X):c.3304G>A (p.Ala1102Thr) rs1555927212
NM_001039591.3(USP9X):c.3386T>C (p.Met1129Thr) rs2147158621
NM_001039591.3(USP9X):c.3763C>T (p.Gln1255Ter) rs869025591
NM_001039591.3(USP9X):c.3869A>G (p.Glu1290Gly)
NM_001039591.3(USP9X):c.3895A>C (p.Ile1299Leu) rs1246487454
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.4796T>C (p.Met1599Thr) rs2147202009
NM_001039591.3(USP9X):c.4817A>G (p.Asp1606Gly) rs2063039248
NM_001039591.3(USP9X):c.4881A>T (p.Lys1627Asn)
NM_001039591.3(USP9X):c.4882C>A (p.Pro1628Thr)
NM_001039591.3(USP9X):c.4973G>A (p.Arg1658Gln)
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.5230A>G (p.Ile1744Val)
NM_001039591.3(USP9X):c.5290G>A (p.Glu1764Lys)
NM_001039591.3(USP9X):c.52C>T (p.Gln18Ter) rs2062209732
NM_001039591.3(USP9X):c.5595del (p.Val1866fs) rs1555933969
NM_001039591.3(USP9X):c.5717C>T (p.Thr1906Ile) rs2147245804
NM_001039591.3(USP9X):c.5842G>A (p.Ala1948Thr)
NM_001039591.3(USP9X):c.6004C>T (p.Arg2002Ter) rs2063213305
NM_001039591.3(USP9X):c.6310C>A (p.Leu2104Ile)
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.671T>C (p.Leu224Pro)
NM_001039591.3(USP9X):c.6991dup (p.Tyr2331fs) rs2147266578
NM_001039591.3(USP9X):c.7096C>T (p.Arg2366Ter)
NM_001039591.3(USP9X):c.7206C>A (p.Tyr2402Ter)
NM_001039591.3(USP9X):c.7219-6T>C
NM_001039591.3(USP9X):c.7431+9dup rs774054468
NM_001039591.3(USP9X):c.7507C>T (p.Pro2503Ser)
NM_001039591.3(USP9X):c.766A>G (p.Ile256Val) rs2062415844
NM_001039591.3(USP9X):c.771-2A>G

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