ClinVar Miner

List of variants in gene DOK7 reported by Baylor Genetics

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.296C>T (p.Ala99Val) rs138010842 0.00046
NM_173660.5(DOK7):c.1425G>T (p.Trp475Cys) rs777626370 0.00029
NM_173660.5(DOK7):c.1373C>A (p.Ala458Asp) rs778440478 0.00008
NM_173660.5(DOK7):c.829G>A (p.Ala277Thr) rs759117081 0.00005
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu) rs770987150 0.00003
NM_173660.5(DOK7):c.773-2_773-1del rs770163440 0.00002
NM_173660.5(DOK7):c.1178T>A (p.Val393Asp) rs752627566 0.00001
NM_173660.5(DOK7):c.331+1G>T rs1349476281 0.00001
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg) rs758131044 0.00001
NM_173660.5(DOK7):c.496G>A (p.Gly166Arg) rs781227659 0.00001
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg) rs768892432 0.00001
NM_173660.5(DOK7):c.596del (p.Ile199fs) rs797045528 0.00001
NM_173660.5(DOK7):c.811A>G (p.Ser271Gly) rs756253716 0.00001
NM_173660.5(DOK7):c.1001_1011dup (p.Ser338fs)
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.1138del (p.Ala380fs)
NM_173660.5(DOK7):c.1138dup (p.Ala380fs) rs761899995
NM_173660.5(DOK7):c.1143del (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1143dup (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1164C>A (p.Cys388Ter)
NM_173660.5(DOK7):c.1185C>G (p.Tyr395Ter)
NM_173660.5(DOK7):c.1243_1340del (p.Pro415fs)
NM_173660.5(DOK7):c.1247_1250dup (p.Asp417fs)
NM_173660.5(DOK7):c.1263del (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1263dup (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1267C>T (p.Gln423Ter) rs1728650830
NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs) rs778172294
NM_173660.5(DOK7):c.1323del (p.Cys442fs) rs1210035894
NM_173660.5(DOK7):c.1339_1342del (p.Leu447fs)
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs) rs606231131
NM_173660.5(DOK7):c.1356_1360del (p.Leu454fs)
NM_173660.5(DOK7):c.1378del (p.Gln460fs)
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_173660.5(DOK7):c.1417G>T (p.Glu473Ter)
NM_173660.5(DOK7):c.1476_1477insA (p.Pro493fs)
NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs) rs797045040
NM_173660.5(DOK7):c.1501_1502del (p.Asn501fs)
NM_173660.5(DOK7):c.28del (p.Gln10fs) rs1560200925
NM_173660.5(DOK7):c.332-1G>A rs1490214819
NM_173660.5(DOK7):c.391_394dup (p.His132fs)
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
NM_173660.5(DOK7):c.415G>C (p.Val139Leu) rs571769859
NM_173660.5(DOK7):c.451C>T (p.Gln151Ter)
NM_173660.5(DOK7):c.480C>A (p.Tyr160Ter) rs550024569
NM_173660.5(DOK7):c.513C>T (p.Gly171=) rs775583136
NM_173660.5(DOK7):c.54+25_55-38del rs769850502
NM_173660.5(DOK7):c.625C>A (p.Pro209Thr) rs759603846
NM_173660.5(DOK7):c.682G>T (p.Glu228Ter)
NM_173660.5(DOK7):c.812_815dup (p.His272fs)
NM_173660.5(DOK7):c.851G>A (p.Trp284Ter)
NM_173660.5(DOK7):c.872C>G (p.Ser291Ter)
NM_173660.5(DOK7):c.884C>G (p.Ser295Ter)
NM_173660.5(DOK7):c.944C>G (p.Ser315Ter)
NM_173660.5(DOK7):c.957dup (p.Lys320fs) rs794727884
NM_173660.5(DOK7):c.976C>T (p.Gln326Ter)

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