ClinVar Miner

List of variants studied for X-linked disease by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
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.6458dup (p.Ser2153fs) rs2063238551
NM_001081550.2(THOC2):c.3305A>G (p.Tyr1102Cys) rs2047177327
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs) rs1557135353
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001111125.3(IQSEC2):c.4092del (p.Thr1365fs) rs2074096700
NM_001356.5(DDX3X):c.381G>A (p.Trp127Ter)
NM_002547.2(OPHN1):c.313_326del
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys) rs1057524031
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004187.5(KDM5C):c.1747G>T (p.Val583Phe) rs1602183890
NM_004586.3(RPS6KA3):c.307AAG[1] (p.Lys104del) rs2148721833
NM_004606.5(TAF1):c.4748A>G (p.Tyr1583Cys) rs2148612232
NM_015107.3(PHF8):c.1880del (p.Lys627fs) rs2065590491
NM_021120.4(DLG3):c.1819+1del
NM_153252.5(BRWD3):c.3893T>A (p.Leu1298Ter) rs750080794
NM_153252.5(BRWD3):c.439dup (p.Thr147fs)
NM_203475.3(PORCN):c.884C>T (p.Pro295Leu) rs2061701575

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