ClinVar Miner

List of variants reported as uncertain significance for Intellectual disability, autosomal dominant 5 by Revvity Omics, Revvity

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.4021G>A (p.Ala1341Thr) rs771224281 0.00004
NM_006772.3(SYNGAP1):c.432G>A (p.Thr144=) rs765193793 0.00002
NM_006772.3(SYNGAP1):c.1312G>A (p.Ala438Thr) rs765011916 0.00001
NM_006772.3(SYNGAP1):c.314C>T (p.Ser105Leu) rs747205991 0.00001
NM_006772.3(SYNGAP1):c.3572G>A (p.Arg1191Gln) rs574603811 0.00001
NM_006772.3(SYNGAP1):c.509+5A>C rs780314191 0.00001
NM_006772.3(SYNGAP1):c.815G>A (p.Arg272Gln) rs1232085113 0.00001
NM_006772.3(SYNGAP1):c.127G>A (p.Gly43Ser) rs1776862933
NM_006772.3(SYNGAP1):c.2594_2602del (p.Ala865_Gly867del) rs2537446458
NM_006772.3(SYNGAP1):c.2753C>T (p.Ala918Val) rs2151188913
NM_006772.3(SYNGAP1):c.3121C>T (p.Pro1041Ser) rs1561789701
NM_006772.3(SYNGAP1):c.388-3C>G rs1448169616
NM_006772.3(SYNGAP1):c.453C>A (p.Asp151Glu) rs2537351861
NM_006772.3(SYNGAP1):c.67+3A>C rs2537261088
NM_006772.3(SYNGAP1):c.791T>A (p.Leu264Gln) rs2537389077

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