ClinVar Miner

List of variants in gene DOK7 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
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.1317C>T (p.Ser439=) rs16844467 0.01424
NM_173660.5(DOK7):c.782G>A (p.Arg261His) rs16844460 0.01070
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp) rs149905649 0.00516
NM_173660.5(DOK7):c.1278C>T (p.Pro426=) rs139468087 0.00181
NM_173660.5(DOK7):c.1008G>A (p.Ser336=) rs185050737 0.00131
NM_173660.5(DOK7):c.831C>T (p.Ala277=) rs150549589 0.00113
NM_173660.5(DOK7):c.1446G>A (p.Ala482=) rs773592493 0.00001
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs) rs606231131
NM_173660.5(DOK7):c.1358dup (p.Leu454fs) rs775544277
NM_173660.5(DOK7):c.1402G>T (p.Gly468Cys)
NM_173660.5(DOK7):c.1403_1408dup (p.Gly468_Pro469dup) rs762148551

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