ClinVar Miner

List of variants reported as not provided for Coffin-Siris syndrome 1 by GenomeConnect, ClinGen

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.4533+6C>A rs1311909722 0.00001
NM_001374828.1(ARID1B):c.5407del (p.Leu1803fs) rs1794427847
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_003070.5(SMARCA2):c.2561A>G (p.His854Arg) rs281875202
NM_006015.6(ARID1A):c.6410C>A (p.Ala2137Asp) rs1553153771

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