ClinVar Miner

List of variants in gene SMC3 studied for De Lange syndrome

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005445.4(SMC3):c.1670+6_1670+7insAAC rs766155607 0.00006
NM_005445.3(SMC3):c.-135G>A rs17127559 0.00003
NM_005445.3(SMC3):c.-130G>A rs559499419 0.00002
NM_005445.4(SMC3):c.*298del rs886046697
NM_005445.4(SMC3):c.2535+28del rs397847637
NM_005445.4(SMC3):c.2535+28dup rs397847637
NM_005445.4(SMC3):c.3563G>T (p.Gly1188Val) rs1590572104
NM_005445.4(SMC3):c.381C>G (p.Ser127Arg) rs748876063
NM_005445.4(SMC3):c.548-5_548-4dup rs199906378
NM_005445.4(SMC3):c.724-6dup rs11380915

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