ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_001363725.2(ARID1B):c.-48C>T rs869312712
NM_017519.2(ARID1B):c.6061C>T (p.Gln2021Ter) rs869312697
NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) rs797045277
NM_020732.3(ARID1B):c.4870C>T (p.Arg1624Ter) rs1554236040

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