ClinVar Miner

List of variants in gene USP9X studied for Inborn genetic diseases

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001039591.3(USP9X):c.5924C>G (p.Thr1975Ser) rs185398631 0.00043
NM_001039591.3(USP9X):c.2996A>G (p.Asn999Ser) rs200361970 0.00037
NM_001039591.3(USP9X):c.304A>G (p.Ile102Val) rs371103694 0.00022
NM_001039591.3(USP9X):c.4163A>G (p.Asn1388Ser) rs369178019 0.00019
NM_001039591.3(USP9X):c.695A>G (p.Asn232Ser) rs201840070 0.00017
NM_001039591.3(USP9X):c.3431G>A (p.Arg1144Gln) rs747545589 0.00002
NM_001039591.3(USP9X):c.1161A>G (p.Ala387=) rs758834960 0.00001
NM_001039591.3(USP9X):c.1660C>G (p.Arg554Gly) rs1476156536 0.00001
NM_001039591.3(USP9X):c.3382A>T (p.Ser1128Cys) rs1274391019 0.00001
NM_001039591.3(USP9X):c.3491A>G (p.Tyr1164Cys) rs2062857166 0.00001
NM_001039591.3(USP9X):c.5428A>G (p.Ile1810Val) rs758545508 0.00001
NM_001039591.3(USP9X):c.5880C>A (p.Asp1960Glu) rs770636921 0.00001
NM_001039591.3(USP9X):c.986A>C (p.Lys329Thr) rs1186136318 0.00001
NM_001039591.3(USP9X):c.1631G>A (p.Arg544His)
NM_001039591.3(USP9X):c.1763+1G>A rs1555922391
NM_001039591.3(USP9X):c.1957G>T (p.Glu653Ter)
NM_001039591.3(USP9X):c.3044C>T (p.Pro1015Leu)
NM_001039591.3(USP9X):c.3131T>C (p.Met1044Thr)
NM_001039591.3(USP9X):c.3140T>C (p.Met1047Thr)
NM_001039591.3(USP9X):c.3199C>A (p.Leu1067Ile)
NM_001039591.3(USP9X):c.367G>A (p.Gly123Arg) rs1057524756
NM_001039591.3(USP9X):c.3955T>G (p.Leu1319Val) rs1243922076
NM_001039591.3(USP9X):c.3994G>A (p.Ala1332Thr)
NM_001039591.3(USP9X):c.4439A>G (p.Asn1480Ser)
NM_001039591.3(USP9X):c.4550A>G (p.Lys1517Arg)
NM_001039591.3(USP9X):c.4703T>C (p.Met1568Thr) rs2063038072
NM_001039591.3(USP9X):c.4885G>C (p.Ala1629Pro) rs1473258784
NM_001039591.3(USP9X):c.5227G>A (p.Asp1743Asn)
NM_001039591.3(USP9X):c.5634dup (p.His1879fs) rs2063210388
NM_001039591.3(USP9X):c.5678A>G (p.Glu1893Gly)
NM_001039591.3(USP9X):c.5683A>G (p.Asn1895Asp) rs1555933987
NM_001039591.3(USP9X):c.6034T>A (p.Phe2012Ile) rs1555934050
NM_001039591.3(USP9X):c.6077C>T (p.Pro2026Leu) rs868175613
NM_001039591.3(USP9X):c.6229C>T (p.Leu2077Phe)
NM_001039591.3(USP9X):c.6487C>A (p.Leu2163Ile)
NM_001039591.3(USP9X):c.6611del (p.Thr2204fs) rs2063281419
NM_001039591.3(USP9X):c.6794C>T (p.Ser2265Leu) rs1555935589
NM_001039591.3(USP9X):c.6884A>G (p.Asn2295Ser)
NM_001039591.3(USP9X):c.7382A>G (p.His2461Arg) rs2063343954
NM_001039591.3(USP9X):c.7424C>T (p.Pro2475Leu) rs2063344187
NM_001039591.3(USP9X):c.82dup (p.Leu28fs) rs758083405
NM_001039591.3(USP9X):c.911A>T (p.Asn304Ile) rs1555920902
NM_001039591.3(USP9X):c.958A>G (p.Arg320Gly)
NM_001039591.3(USP9X):c.982_983del (p.Thr327_Val328insTer) rs2062419468

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