ClinVar Miner

List of variants reported as uncertain significance for Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004947.5(DOCK3):c.3887A>G (p.Lys1296Arg) rs201184598 0.00019
NM_004947.5(DOCK3):c.442G>A (p.Val148Met) rs772466836 0.00003
NM_004947.5(DOCK3):c.1868T>C (p.Met623Thr) rs763256605 0.00001
NM_004947.5(DOCK3):c.2002G>A (p.Val668Met) rs369711717 0.00001
NM_004947.5(DOCK3):c.3050C>G (p.Ser1017Cys) rs2548962494 0.00001
NM_004947.5(DOCK3):c.3740T>C (p.Met1247Thr) rs772473854 0.00001
NM_004947.5(DOCK3):c.1394G>C (p.Gly465Ala) rs2090367894
NM_004947.5(DOCK3):c.2221C>T (p.Arg741Trp) rs753075056
NM_004947.5(DOCK3):c.2249G>T (p.Gly750Val) rs2079779134
NM_004947.5(DOCK3):c.3637G>A (p.Glu1213Lys) rs2085005160
NM_004947.5(DOCK3):c.551A>G (p.His184Arg) rs2082542973

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