ClinVar Miner

List of variants reported as uncertain significance for Intellectual disability by Institute of Human Genetics, University of Goettingen

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Total variants: 12
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 1p36.32(chr1:2694731-3190921)x3
GRCh37/hg19 20p11.21(chr20:25295600-25397825)x1
GRCh37/hg19 20q11.22(chr20:32854720-32914371)x3
GRCh37/hg19 2q23.1(chr2:149093832-149198502)x1
GRCh37/hg19 3q22.1(chr3:131507971-132143591)x3
GRCh37/hg19 5q35.3(chr5:179606925-179807137)x1
GRCh37/hg19 6p25.3(chr6:1989529-2084356)x1
GRCh37/hg19 6q14.3(chr6:85852930-86514050)x4
GRCh37/hg19 8p23.1(chr8:9598226-10803255)x1
GRCh37/hg19 Xp22.31(chrX:7056909-8005133)x3
GRCh37/hg19 Xp22.32(chrX:5073112-5578094)x1
NM_001256627.2(BRSK2):c.702C>A (p.His234Gln) rs772319187

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