ClinVar Miner

List of variants in gene SMC1A reported as benign by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.-19C>T rs1264011 0.42752
NM_006306.4(SMC1A):c.412-10C>T rs149219651 0.01511
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_006306.4(SMC1A):c.699G>A (p.Val233=) rs145319852 0.00488
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=) rs146216425 0.00051
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=) rs139654605 0.00039

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