ClinVar Miner

List of variants in gene ARFGEF2 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) rs73113975 0.00540
NM_006420.3(ARFGEF2):c.423+3A>G rs2295029 0.00491
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) rs149172723 0.00230
NM_006420.3(ARFGEF2):c.1275C>T (p.His425=) rs117131028 0.00143
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser) rs139037316 0.00124
NM_006420.3(ARFGEF2):c.811C>G (p.Pro271Ala) rs143570842 0.00102
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880 0.00079
NM_006420.3(ARFGEF2):c.172C>T (p.Pro58Ser) rs149471454 0.00045
NM_006420.3(ARFGEF2):c.5063C>T (p.Thr1688Ile) rs145439001 0.00041
NM_006420.3(ARFGEF2):c.4346A>C (p.Asn1449Thr) rs200473895 0.00026
NM_006420.3(ARFGEF2):c.3056G>A (p.Arg1019His) rs144322567 0.00008
NM_006420.3(ARFGEF2):c.2015G>A (p.Gly672Glu) rs373933885 0.00004
NM_006420.2(ARFGEF2):c.1062_1067del rs1555810077
NM_006420.3(ARFGEF2):c.2101G>A (p.Ala701Thr) rs201298117
NM_006420.3(ARFGEF2):c.4624+6G>T rs768990826

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