ClinVar Miner

Variants in gene DOK7 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: 24
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HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.-30G>T rs146168804 0.11265
NM_173660.5(DOK7):c.652+50G>A rs2006802 0.06939
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn) rs16844422 0.02362
NM_173660.5(DOK7):c.-6C>G rs191800156 0.01785
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp) rs16844470 0.01433
NM_173660.5(DOK7):c.1317C>T (p.Ser439=) rs16844467 0.01424
NM_173660.5(DOK7):c.1143C>T (p.Pro381=) rs56769879 0.01415
NM_173660.5(DOK7):c.782G>A (p.Arg261His) rs16844460 0.01070
NM_001301071.2(DOK7):c.1620C>T (p.Pro540=) rs143778632 0.00976
NM_173660.5(DOK7):c.332-4G>A rs199578351 0.00790
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp) rs149905649 0.00516
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670 0.00470
NM_001301071.2(DOK7):c.1599G>A (p.Ser533=) rs115742102 0.00363
NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys) rs145419117 0.00243
NM_173660.5(DOK7):c.904G>C (p.Ala302Pro) rs79063654 0.00237
NM_173660.5(DOK7):c.178G>A (p.Glu60Lys) rs199980106 0.00227
NM_173660.5(DOK7):c.919G>A (p.Ala307Thr) rs150415034 0.00210
NM_173660.5(DOK7):c.812G>C (p.Ser271Thr) rs144592743 0.00202
NM_173660.5(DOK7):c.1278C>T (p.Pro426=) rs139468087 0.00181
NM_173660.5(DOK7):c.831C>T (p.Ala277=) rs150549589 0.00113
NM_173660.5(DOK7):c.100+36del rs566267525
NM_173660.5(DOK7):c.332-49C>T rs114112298
NM_173660.5(DOK7):c.54+29G>T rs767030857
NM_173660.5(DOK7):c.967C>T (p.Arg323Cys) rs150728781

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