ClinVar Miner

List of variants reported for Abnormality of the eye; Global developmental delay; Motor delay; Cognitive impairment; Brachycephaly; Delayed speech and language development; Intellectual disability, mild; Generalized hypotonia; Neonatal hypotonia by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 16p11.2(chr16:29656684-30197341)
GRCh37/hg19 22q11.21(chr22:21081260-21431174)
GRCh37/hg19 8q23.1(chr8:109990022-110168343)

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