ClinVar Miner

List of variants in gene SMARCAL1 studied for Atrioventricular septal defect; Short stature; Focal segmental glomerulosclerosis; Microcephaly; Small for gestational age; Disproportionate short-trunk short stature; Decreased body weight; Congenital microcephaly; Steroid-resistant nephrotic syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_001127207.2(SMARCAL1):c.723C>A (p.Cys241Ter) rs748106387

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