ClinVar Miner

List of variants in gene SMC1A reported as benign for Inborn genetic diseases

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00977
NM_006306.4(SMC1A):c.699G>A (p.Val233=) rs145319852 0.00488
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=) rs7052858 0.00452
NM_006306.4(SMC1A):c.855-15C>T rs147791932 0.00326
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=) rs147952638 0.00019
NM_006306.4(SMC1A):c.1101G>A (p.Leu367=) rs782695048 0.00003

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