ClinVar Miner

List of variants in gene ARFGEF2 reported as likely pathogenic

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_006420.3(ARFGEF2):c.2821C>T (p.Arg941Ter)
NM_006420.3(ARFGEF2):c.3169C>T (p.Gln1057Ter) rs1057520166
NM_006420.3(ARFGEF2):c.4050-2A>T
NM_006420.3(ARFGEF2):c.4059dup (p.Val1354fs) rs1600546214
NM_006420.3(ARFGEF2):c.4269del (p.Leu1424fs) rs2091529784
NM_006420.3(ARFGEF2):c.4455-1G>A rs2091537662
NM_006420.3(ARFGEF2):c.656dup (p.Val220fs) rs730882200
NM_006420.3(ARFGEF2):c.91C>T (p.Gln31Ter)
Single allele rs730882200

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