ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 64 by Revvity Omics, Revvity

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015178.3(RHOBTB2):c.1039G>A (p.Val347Met) rs762216794 0.00003
NM_015178.3(RHOBTB2):c.332A>G (p.Asn111Ser) rs766119429 0.00001
NM_015178.3(RHOBTB2):c.1331A>G (p.Asp444Gly)
NM_015178.3(RHOBTB2):c.276C>G (p.Asp92Glu)

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