ClinVar Miner

List of variants reported for Neurodevelopmental disorder by Daryl Scott Lab, Baylor College of Medicine

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_013450.4(BAZ2B):c.628C>T (p.Arg210Ter) rs780189423 0.00001
GRCh37/hg19 2q24.2(chr2:160124451-160219840)x1
GRCh37/hg19 2q24.2(chr2:160124451-160511552)x1
GRCh37/hg19 9p13.2-13.1(chr9:36426622-38787479)x1
GRCh37/hg19 9p13.2-13.1(chr9:36442195-39156958)x1
GRCh37/hg19 9p13.3-13.1(chr9:36088563-39092820)x1
GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1
NM_013450.4(BAZ2B):c.2126G>A (p.Cys709Tyr) rs1576949430
NM_013450.4(BAZ2B):c.242C>G (p.Ser81Ter) rs767318278
NM_013450.4(BAZ2B):c.5036A>T (p.Glu1679Val) rs1575883384
NM_016734.3(PAX5):c.1129C>T (p.Arg377Ter) rs377685637
NM_016734.3(PAX5):c.157G>C (p.Asp53His) rs1337956293
NM_016734.3(PAX5):c.419G>A (p.Arg140Gln) rs2132424384
NM_016734.3(PAX5):c.661C>T (p.Arg221Trp) rs2132194720
NM_016734.3(PAX5):c.962C>A (p.Pro321His) rs577863510

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