ClinVar Miner

List of variants studied for Intellectual disability, X-linked 1 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 11
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 Xp11.22(chrX:53239546-53349064)x1
NM_001111125.3(IQSEC2):c.1042C>T (p.Arg348Cys) rs2074443830
NM_001111125.3(IQSEC2):c.1797_1800dup (p.Asp601Ter)
NM_001111125.3(IQSEC2):c.2272C>T (p.Arg758Ter) rs886041433
NM_001111125.3(IQSEC2):c.2297+2T>C rs2147096217
NM_001111125.3(IQSEC2):c.2519T>C (p.Phe840Ser) rs2074335877
NM_001111125.3(IQSEC2):c.2617C>A (p.Arg873Ser) rs782383669
NM_001111125.3(IQSEC2):c.2710C>T (p.Arg904Ter) rs2074317360
NM_001111125.3(IQSEC2):c.2890-3T>G rs2147050192
NM_001111125.3(IQSEC2):c.3068dup (p.Ser1024fs) rs2074181394
NM_001111125.3(IQSEC2):c.3284_3310del (p.Leu1095_Arg1103del) rs2147015547

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