ClinVar Miner

List of variants in gene USP9X reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001039591.3(USP9X):c.6360A>G (p.Ile2120Met) rs201128029 0.00013
NM_001039591.3(USP9X):c.3103C>T (p.Pro1035Ser) rs372177157 0.00003
NM_001039591.3(USP9X):c.3892T>C (p.Leu1298=) rs1361298317 0.00002
NM_001039591.3(USP9X):c.1778G>C (p.Ser593Thr) rs368381992 0.00001
NM_001039591.3(USP9X):c.2779G>A (p.Val927Ile) rs1156545933 0.00001
NM_001039591.3(USP9X):c.3503G>A (p.Arg1168Gln) rs1271252455 0.00001
NM_001039591.3(USP9X):c.558C>T (p.Ile186=) rs1188501864 0.00001
NM_001039591.3(USP9X):c.6799C>T (p.Pro2267Ser) rs763353056 0.00001
NM_001039591.3(USP9X):c.2087C>G (p.Ala696Gly) rs2147113785
NM_001039591.3(USP9X):c.2915T>G (p.Met972Arg)
NM_001039591.3(USP9X):c.3050A>G (p.Tyr1017Cys) rs2062729211
NM_001039591.3(USP9X):c.307G>A (p.Asp103Asn)
NM_001039591.3(USP9X):c.3245G>A (p.Gly1082Asp)
NM_001039591.3(USP9X):c.3410C>T (p.Pro1137Leu)
NM_001039591.3(USP9X):c.3958C>A (p.Leu1320Ile)
NM_001039591.3(USP9X):c.4156G>A (p.Ala1386Thr)
NM_001039591.3(USP9X):c.4604-7C>T
NM_001039591.3(USP9X):c.6852T>C (p.Ser2284=)
NM_001039591.3(USP9X):c.7211T>C (p.Ile2404Thr) rs2147276690
NM_001039591.3(USP9X):c.7592_7593del (p.Arg2531fs)
NM_001039591.3(USP9X):c.802C>T (p.Leu268Phe) rs2062417635
NM_001039591.3(USP9X):c.993A>G (p.Leu331=) rs1601965887

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