ClinVar Miner

List of variants reported for Severe intellectual deficiency by Laboratory of Molecular Genetics, CHU Rennes

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.1072del (p.Tyr358fs) rs1057518989
NM_001039591.3(USP9X):c.5339_5340del (p.Thr1780fs) rs1057519007
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs) rs886041481
NM_003070.5(SMARCA2):c.1450C>A (p.His484Asn) rs1057518990
NM_005249.5(FOXG1):c.545C>T (p.Pro182Leu) rs796052461
NM_020320.5(RARS2):c.407T>C (p.Val136Ala) rs1057519014
NM_134261.3(RORA):c.1019del (p.Arg340fs) rs1057518981
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His) rs1057516085

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