ClinVar Miner

List of variants in gene USP9X reported as uncertain significance for X-linked disease

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
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.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_001039591.3(USP9X):c.1081G>A (p.Val361Met)
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.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.1782C>G (p.Pro594=) rs2062543205
NM_001039591.3(USP9X):c.1877G>A (p.Ser626Asn) rs1569170734
NM_001039591.3(USP9X):c.1986-5dup rs1407518245
NM_001039591.3(USP9X):c.2089T>C (p.Cys697Arg)
NM_001039591.3(USP9X):c.2276G>A (p.Arg759Lys)
NM_001039591.3(USP9X):c.2638G>A (p.Ala880Thr) rs2062711098
NM_001039591.3(USP9X):c.2663T>G (p.Phe888Cys) rs1174582313
NM_001039591.3(USP9X):c.2754T>G (p.Cys918Trp)
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.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.38A>G (p.Asn13Ser)
NM_001039591.3(USP9X):c.3955T>G (p.Leu1319Val) rs1243922076
NM_001039591.3(USP9X):c.4469C>T (p.Pro1490Leu) rs1555929612
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.5190G>T (p.Arg1730Ser) rs2147242046
NM_001039591.3(USP9X):c.5489C>G (p.Ala1830Gly)
NM_001039591.3(USP9X):c.6075C>T (p.Asn2025=) rs1374013183
NM_001039591.3(USP9X):c.6310C>A (p.Leu2104Ile)
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.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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