ClinVar Miner

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

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_013275.6(ANKRD11):c.1381_1384del (p.Glu461fs) rs1597464953
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.1977C>A (p.Tyr659Ter) rs749201074
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.2692C>T (p.Arg898Ter) rs780011005
NM_013275.6(ANKRD11):c.3591_3594del (p.Lys1198fs) rs2151754276
NM_013275.6(ANKRD11):c.3888dup (p.Asn1297fs) rs2151752804
NM_013275.6(ANKRD11):c.4087C>T (p.Arg1363Ter) rs1364690005
NM_013275.6(ANKRD11):c.4218C>A (p.Tyr1406Ter) rs764501022
NM_013275.6(ANKRD11):c.5123C>A (p.Ser1708Ter) rs371204323
NM_013275.6(ANKRD11):c.7356dup (p.Lys2453fs) rs2151729404
NM_013275.6(ANKRD11):c.915del (p.Pro306fs) rs2151766822
NM_021614.4(KCNN2):c.1598_1600del (p.Leu533del) rs1554086554

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