ClinVar Miner

List of variants reported as likely pathogenic for Coffin-Siris syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.3922C>T (p.Arg1308Trp) rs587779750 0.00001
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001374828.1(ARID1B):c.4705C>T (p.Gln1569Ter) rs797045278
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp) rs770014321
NM_003072.5(SMARCA4):c.3734C>G (p.Ala1245Gly) rs797045984
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu) rs797045989
NM_006015.6(ARID1A):c.5138T>C (p.Leu1713Pro) rs797045264

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