ClinVar Miner

List of variants studied for Chopra-Amiel-Gordon syndrome by Revvity Omics, Revvity

Included ClinVar conditions (1):
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_032217.5(ANKRD17):c.2915G>A (p.Gly972Glu) rs1309655433 0.00001
NM_032217.5(ANKRD17):c.1861G>A (p.Ala621Thr) rs745621090
NM_032217.5(ANKRD17):c.6160G>A (p.Gly2054Arg) rs1722791436

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