ClinVar Miner

List of variants studied for Complex cortical dysplasia with other brain malformations 3 by Revvity Omics, Revvity

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001098511.3(KIF2A):c.1064A>G (p.Tyr355Cys) rs368021683 0.00005
NM_001098511.3(KIF2A):c.1760+5A>G
NM_001098511.3(KIF2A):c.2000G>A (p.Arg667Lys)
NM_001098511.3(KIF2A):c.959C>T (p.Thr320Ile) rs1554042050

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