ClinVar Miner

List of variants reported as likely pathogenic for Neurodevelopmental disorder by Hadassah Hebrew University Medical Center

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_007187.5(WBP4):c.440-1G>A rs1355288041 0.00001
NC_000013.11:g.41074134_41090164del
NM_001009880.2(KIAA0930):c.965C>T (p.Ser322Leu) rs2147734951
NM_001009880.2(KIAA0930):c.971C>T (p.Ser324Leu) rs2147734941
NM_001009880.2(KIAA0930):c.973G>A (p.Ala325Thr) rs2147734937
NM_007187.5(WBP4):c.499del (p.Thr167fs) rs2541856897
NM_007187.5(WBP4):c.668C>G (p.Ser223Ter) rs2541859093
NM_007187.5(WBP4):c.944del (p.Pro315fs) rs1427720732
NM_080546.5(SLC44A1):c.1009C>T (p.Gln337Ter) rs1588833694

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