ClinVar Miner

List of variants reported as pathogenic for Coffin-Siris syndrome 1 by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_017519.2(ARID1B):c.1864C>T (p.Gln622Ter) rs387907142
NM_017519.2(ARID1B):c.3284_3285del (p.Lys1095fs) rs876657380
NM_017519.2(ARID1B):c.3880C>T (p.Gln1294Ter) rs387907140
NM_017519.2(ARID1B):c.3999T>A (p.Tyr1333Ter) rs748363079
NM_017519.2(ARID1B):c.4583_4592del (p.Gln1528fs) rs876657382
NM_017519.2(ARID1B):c.5290A>T (p.Lys1764Ter) rs387907143
NM_017519.2(ARID1B):c.5527_5530AAGA[1] (p.Lys1844fs) rs886041706
NM_017519.2(ARID1B):c.5593del (p.Asp1865fs) rs876657381
NM_017519.2(ARID1B):c.6424_6434del (p.Ser2142fs) rs876657379
NM_020732.3(ARID1B):c.3223C>T (p.Arg1075Ter) rs387907144
NM_020732.3(ARID1B):c.3304C>T (p.Arg1102Ter) rs387907141
NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) rs797045277

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