ClinVar Miner

List of variants reported as benign for Intellectual disability-hypotonia-spasticity-sleep disorder syndrome

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_020987.5(ANK3):c.13066-44C>A rs2393607 0.76162
NM_020987.5(ANK3):c.*19+77T>A rs2393604 0.72294
NM_020987.5(ANK3):c.*19+55T>A rs2393606 0.72139
NM_020987.5(ANK3):c.*19+56T>A rs2393605 0.72136
NM_020987.5(ANK3):c.13066-33T>A rs9888033 0.60330
NM_020987.5(ANK3):c.2479-74T>C rs11814723 0.59590
NM_020987.5(ANK3):c.8895T>C (p.Ala2965=) rs10740006 0.18901
NM_020987.5(ANK3):c.9368A>G (p.Lys3123Arg) rs10821668 0.18742
NM_020987.5(ANK3):c.*19+88G>T rs2393603
NM_020987.5(ANK3):c.12686+49A>C rs10733757
NM_020987.5(ANK3):c.13066-62dup rs5785427
NM_020987.5(ANK3):c.1690-15dup rs34796699
NM_020987.5(ANK3):c.3045G>T (p.Thr1015=) rs3750800
NM_020987.5(ANK3):c.468C>G (p.Val156=) rs71495633

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