ClinVar Miner

List of variants reported for Intellectual disability by Institute of Human Genetics, University of Wuerzburg

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.6068-8C>T rs61936939 0.01078
NM_001032221.6(STXBP1):c.1316TCA[1] (p.Ile440del) rs1841769844
NM_001197104.2(KMT2A):c.766dup (p.Ile256fs) rs1565278132
NM_005458.8(GABBR2):c.2413-3T>C rs1830432060
NM_012309.5(SHANK2):c.2439+1G>A rs2058899044
NM_013275.6(ANKRD11):c.4554del (p.Arg1519fs) rs2034289118
NM_016648.4(LARP7):c.1669-1_1671del rs778909076
NM_022552.5(DNMT3A):c.427C>T (p.Arg143Ter) rs1352259738

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