ClinVar Miner

Variants in gene ARFGEF2 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_006420.3(ARFGEF2):c.3663T>C (p.Gly1221=) rs2295580 0.38170
NM_006420.3(ARFGEF2):c.4131C>T (p.Ile1377=) rs2281582 0.13125
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) rs73113975 0.00540
NM_006420.3(ARFGEF2):c.1512G>A (p.Thr504=) rs116550473 0.00395
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) rs149172723 0.00230
NM_006420.3(ARFGEF2):c.424-17G>A rs142971046 0.00200
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser) rs139037316 0.00124
NM_006420.3(ARFGEF2):c.1644G>A (p.Glu548=) rs147534008 0.00098
NM_006420.3(ARFGEF2):c.2686-9C>T rs200945599 0.00092
NM_006420.3(ARFGEF2):c.1398T>C (p.Phe466=) rs141596938 0.00081
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880 0.00079
NM_006420.3(ARFGEF2):c.1185C>T (p.Asp395=) rs140378669 0.00059
NM_006420.3(ARFGEF2):c.3275G>A (p.Arg1092His) rs151045115 0.00052
NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser) rs151221957 0.00046
NM_006420.3(ARFGEF2):c.756C>T (p.Asn252=) rs114729625 0.00031
NM_006420.3(ARFGEF2):c.4346A>C (p.Asn1449Thr) rs200473895 0.00026
NM_006420.3(ARFGEF2):c.1329C>T (p.Asn443=) rs192383756 0.00012
NM_006420.3(ARFGEF2):c.4212C>T (p.His1404=) rs376257322 0.00004
NM_006420.3(ARFGEF2):c.3758-3del rs797045256

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