ClinVar Miner

List of variants in gene SMARCB1 reported as benign for Coffin-Siris syndrome 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_003073.5(SMARCB1):c.*116dup rs397897183
NM_003073.5(SMARCB1):c.-117C>T rs11090285
NM_003073.5(SMARCB1):c.897G>A (p.Ser299=) rs2229354

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