ClinVar Miner

List of variants studied for Coffin-Siris syndrome 1 by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_020732.3(ARID1B):c.2242C>T (p.Gln748Ter) rs869312712
NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) rs797045277
NM_020732.3(ARID1B):c.4870C>T (p.Arg1624Ter) rs1554236040
NM_020732.3(ARID1B):c.6100C>T (p.Gln2034Ter) rs869312697

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