ClinVar Miner

List of variants reported as likely pathogenic for Global developmental delay by Institute for Human Genetics, University Hospital Essen

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_013275.6(ANKRD11):c.1711_1723del (p.Thr571fs) rs2151763044
NM_013275.6(ANKRD11):c.7411_7422del (p.Thr2471_Gly2474del) rs2151729118
NM_013275.6(ANKRD11):c.7470+2T>C rs2151728875
NM_015557.3(CHD5):c.1279G>A (p.Glu427Lys) rs2100863089
NM_015557.3(CHD5):c.1786C>T (p.Arg596Ter) rs2100860639
NM_015557.3(CHD5):c.577C>T (p.Arg193Trp) rs1571164162

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