ClinVar Miner

List of variants studied for Coffin-Siris syndrome 1 by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_020732.3(ARID1B):c.1903C>T (p.Gln635Ter) rs387907142
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.3323_3324del (p.Lys1108fs) rs876657380
NM_020732.3(ARID1B):c.3919C>T (p.Gln1307Ter) rs387907140
NM_020732.3(ARID1B):c.4038T>A (p.Tyr1346Ter) rs748363079
NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) rs797045277
NM_020732.3(ARID1B):c.4622_4631del (p.Gln1541fs) rs876657382
NM_020732.3(ARID1B):c.5329A>T (p.Lys1777Ter) rs387907143
NM_020732.3(ARID1B):c.5566_5569AAGA[1] (p.Lys1857fs) rs886041706
NM_020732.3(ARID1B):c.5632del (p.Asp1878fs) rs876657381
NM_020732.3(ARID1B):c.6463_6473del (p.Ser2155fs) rs876657379

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