ClinVar Miner

List of variants reported as pathogenic for 2q37 microdeletion syndrome

Included ClinVar conditions (2):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1
GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)
GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384)
GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080)
GRCh37/hg19 2q37.3(chr2:239071623-243048760)
NC_000002.12:g.(211789273_236710421)dup rs2106321147
NM_001378414.1(HDAC4):c.743C>T (p.Pro248Leu) rs1064797002
Single allele

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