ClinVar Miner

List of variants in gene USP9X studied for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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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.131C>T (p.Pro44Leu) rs149866601 0.00013
NM_001039591.3(USP9X):c.4657C>A (p.Pro1553Thr) rs375616476 0.00003
NM_001039591.3(USP9X):c.3382A>T (p.Ser1128Cys) rs1274391019 0.00001
NM_001039591.3(USP9X):c.5671G>C (p.Asp1891His) rs1203955457 0.00001
NM_001039591.3(USP9X):c.6359T>C (p.Ile2120Thr) rs1335823796 0.00001
NM_001039591.3(USP9X):c.7461A>C (p.Glu2487Asp) rs769126922 0.00001
NM_001039591.3(USP9X):c.7663T>C (p.Ter2555Arg) rs1186325484 0.00001
NM_001039591.3(USP9X):c.986A>C (p.Lys329Thr) rs1186136318 0.00001
NM_001039590.2:c.3466_3879del
NM_001039591.3(USP9X):c.1081G>A (p.Val361Met)
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.1282T>G (p.Leu428Val) rs2062438835
NM_001039591.3(USP9X):c.1309G>A (p.Ala437Thr)
NM_001039591.3(USP9X):c.1315-284G>T
NM_001039591.3(USP9X):c.1315-4A>G rs1057522024
NM_001039591.3(USP9X):c.1511C>T (p.Ala504Val)
NM_001039591.3(USP9X):c.1541T>C (p.Leu514Pro)
NM_001039591.3(USP9X):c.16C>T (p.Arg6Cys)
NM_001039591.3(USP9X):c.1700T>C (p.Ile567Thr) rs2062519632
NM_001039591.3(USP9X):c.172C>T (p.Pro58Ser) rs1384577833
NM_001039591.3(USP9X):c.1764-6T>G rs2062542737
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.1877G>A (p.Ser626Asn) rs1569170734
NM_001039591.3(USP9X):c.1986-5dup rs1407518245
NM_001039591.3(USP9X):c.2026C>T (p.Gln676Ter) rs2062675453
NM_001039591.3(USP9X):c.2089T>C (p.Cys697Arg)
NM_001039591.3(USP9X):c.224T>G (p.Leu75Trp) rs2062284547
NM_001039591.3(USP9X):c.2276G>A (p.Arg759Lys)
NM_001039591.3(USP9X):c.2281dup (p.Tyr761fs)
NM_001039591.3(USP9X):c.2554C>T (p.Arg852Ter) rs869025588
NM_001039591.3(USP9X):c.2602del (p.Tyr868fs) rs2147118205
NM_001039591.3(USP9X):c.260del (p.Pro87fs) rs1601957478
NM_001039591.3(USP9X):c.2633C>T (p.Ser878Leu)
NM_001039591.3(USP9X):c.2638G>A (p.Ala880Thr) rs2062711098
NM_001039591.3(USP9X):c.2644_2645insA (p.Arg882fs) rs869025590
NM_001039591.3(USP9X):c.2663T>G (p.Phe888Cys) rs1174582313
NM_001039591.3(USP9X):c.2754T>G (p.Cys918Trp)
NM_001039591.3(USP9X):c.2877+2T>C rs2147123290
NM_001039591.3(USP9X):c.2877+5G>A rs2062713669
NM_001039591.3(USP9X):c.2888C>A (p.Ala963Asp) rs2062716219
NM_001039591.3(USP9X):c.2969A>G (p.His990Arg)
NM_001039591.3(USP9X):c.3027+5G>T rs2147124048
NM_001039591.3(USP9X):c.3028-2A>G rs869025589
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.3410C>T (p.Pro1137Leu)
NM_001039591.3(USP9X):c.3559-1G>C rs2147163808
NM_001039591.3(USP9X):c.3763C>T (p.Gln1255Ter) rs869025591
NM_001039591.3(USP9X):c.3797A>C (p.Lys1266Thr) rs765979381
NM_001039591.3(USP9X):c.38A>G (p.Asn13Ser)
NM_001039591.3(USP9X):c.3905C>T (p.Ala1302Val) rs2147171235
NM_001039591.3(USP9X):c.3955T>G (p.Leu1319Val) rs1243922076
NM_001039591.3(USP9X):c.4060A>T (p.Ile1354Phe)
NM_001039591.3(USP9X):c.4135_4136del (p.Leu1379fs)
NM_001039591.3(USP9X):c.4291dup (p.Leu1431fs) rs2062994512
NM_001039591.3(USP9X):c.4469C>T (p.Pro1490Leu) rs1555929612
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.4829A>G (p.Asn1610Ser) rs1569193411
NM_001039591.3(USP9X):c.4881A>T (p.Lys1627Asn)
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.5190G>T (p.Arg1730Ser) rs2147242046
NM_001039591.3(USP9X):c.5198G>A (p.Cys1733Tyr)
NM_001039591.3(USP9X):c.52C>T (p.Gln18Ter) rs2062209732
NM_001039591.3(USP9X):c.5489C>G (p.Ala1830Gly)
NM_001039591.3(USP9X):c.5636ATT[2] (p.Tyr1881del)
NM_001039591.3(USP9X):c.5717C>T (p.Thr1906Ile) rs2147245804
NM_001039591.3(USP9X):c.6004C>T (p.Arg2002Ter) rs2063213305
NM_001039591.3(USP9X):c.6075C>T (p.Asn2025=) rs1374013183
NM_001039591.3(USP9X):c.6254G>A (p.Arg2085His) rs2147251154
NM_001039591.3(USP9X):c.6278T>A (p.Leu2093His) rs587777317
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.7366T>C (p.Phe2456Leu) rs2063343838
NM_001039591.3(USP9X):c.7431+243G>A rs2147277930
NM_001039591.3(USP9X):c.7431+9dup rs774054468
NM_001039591.3(USP9X):c.7526del (p.Gln2509fs) rs587777318
NM_001039591.3(USP9X):c.771-2A>G
NM_001039591.3(USP9X):c.802_803del (p.Leu268fs)
NM_001039591.3(USP9X):c.904G>A (p.Ala302Thr) rs2147048375

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