ClinVar Miner

List of variants studied for Astigmatism; Leukodystrophy; Motor delay; Seizure; Short stature; Hypermetropia; Delayed speech and language development; Open mouth; Microcephaly; Strabismus; Amblyopia; EEG with generalized slow activity; Allergy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)
NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu) rs1556619324

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