ClinVar Miner

List of variants in gene DOK7 reported as pathogenic for hereditary skeletal muscle disorder

Included ClinVar conditions (591):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu) rs770987150 0.00003
NM_173660.5(DOK7):c.1061C>T (p.Ser354Phe) rs756015202 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.514G>A (p.Gly172Arg) rs768892432 0.00001
NM_173660.5(DOK7):c.596del (p.Ile199fs) rs797045528 0.00001
NC_000004.11:g.(?_3465103)_(3465298_?)del
NC_000004.11:g.(?_3478049)_(3478289_?)del
NC_000004.11:g.(?_3478200)_(3482970_?)del
NC_000004.11:g.(?_3494466)_(3495228_?)del
NC_000004.12:g.(?_3463366)_(3493511_?)del
NC_000004.12:g.(?_3485529)_(3485668_?)del
NM_173660.5(DOK7):c.1001_1011dup (p.Ser338fs)
NM_173660.5(DOK7):c.1021_1039dup (p.Ser347fs) rs1553850100
NM_173660.5(DOK7):c.1040_1041del (p.Ser347fs)
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
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.1153_1166delinsAGGGGCCCCCGA (p.Leu385fs)
NM_173660.5(DOK7):c.1236C>A (p.Cys412Ter)
NM_173660.5(DOK7):c.1243_1340del (p.Pro415fs)
NM_173660.5(DOK7):c.1247_1250dup (p.Asp417fs)
NM_173660.5(DOK7):c.1257_1269del (p.Ser419fs)
NM_173660.5(DOK7):c.1263del (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1263dup (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1264del (p.Ser422fs) rs1258346283
NM_173660.5(DOK7):c.1267C>T (p.Gln423Ter) rs1728650830
NM_173660.5(DOK7):c.1271_1280dup (p.Asn428fs)
NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs) rs778172294
NM_173660.5(DOK7):c.1296_1311dup (p.Thr438fs)
NM_173660.5(DOK7):c.1310_1320del (p.Gln437fs)
NM_173660.5(DOK7):c.1323del (p.Cys442fs) rs1210035894
NM_173660.5(DOK7):c.1323dup (p.Cys442fs)
NM_173660.5(DOK7):c.1324_1357del (p.Cys442fs)
NM_173660.5(DOK7):c.1339_1342del (p.Leu447fs)
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs) rs606231131
NM_173660.5(DOK7):c.1348del (p.Arg450fs)
NM_173660.5(DOK7):c.1358dup (p.Leu454fs) rs775544277
NM_173660.5(DOK7):c.1361_1374del (p.Leu454fs)
NM_173660.5(DOK7):c.1367dup (p.Met456fs)
NM_173660.5(DOK7):c.1372dup (p.Ala458fs)
NM_173660.5(DOK7):c.1378C>T (p.Gln460Ter)
NM_173660.5(DOK7):c.1378del (p.Gln460fs)
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_173660.5(DOK7):c.1387G>T (p.Glu463Ter) rs745941308
NM_173660.5(DOK7):c.1408_1412dup (p.Gly472fs) rs1728671600
NM_173660.5(DOK7):c.1441dup (p.His481fs) rs1168106708
NM_173660.5(DOK7):c.1457del (p.Pro486fs) rs1577184455
NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs) rs797045040
NM_173660.5(DOK7):c.199C>T (p.Pro67Ser) rs1553846331
NM_173660.5(DOK7):c.28C>T (p.Gln10Ter)
NM_173660.5(DOK7):c.28del (p.Gln10fs) rs1560200925
NM_173660.5(DOK7):c.298dup (p.Trp100fs)
NM_173660.5(DOK7):c.299G>A (p.Trp100Ter) rs2109336441
NM_173660.5(DOK7):c.318T>A (p.Tyr106Ter)
NM_173660.5(DOK7):c.325G>A (p.Gly109Ser) rs762952740
NM_173660.5(DOK7):c.429del (p.Asp143fs)
NM_173660.5(DOK7):c.457A>T (p.Lys153Ter) rs1727096342
NM_173660.5(DOK7):c.463_466del (p.Ser155fs)
NM_173660.5(DOK7):c.473G>A (p.Arg158Gln)
NM_173660.5(DOK7):c.480C>A (p.Tyr160Ter) rs550024569
NM_173660.5(DOK7):c.483_484dup (p.Ala162fs) rs1577153124
NM_173660.5(DOK7):c.496G>T (p.Gly166Ter)
NM_173660.5(DOK7):c.513C>T (p.Gly171=) rs775583136
NM_173660.5(DOK7):c.528del (p.Tyr177fs)
NM_173660.5(DOK7):c.54+25_55-38del rs769850502
NM_173660.5(DOK7):c.55-1G>T rs863223277
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter) rs118203995
NM_173660.5(DOK7):c.668dup (p.Pro224fs)
NM_173660.5(DOK7):c.66_69dup (p.Leu24fs)
NM_173660.5(DOK7):c.674C>A (p.Ser225Ter)
NM_173660.5(DOK7):c.810_811del (p.His272fs) rs778227501
NM_173660.5(DOK7):c.852G>A (p.Trp284Ter)
NM_173660.5(DOK7):c.894dup (p.Pro299fs)
NM_173660.5(DOK7):c.925del (p.Glu309fs) rs1182982672
NM_173660.5(DOK7):c.930_933del (p.Met311fs) rs2109417343
NM_173660.5(DOK7):c.957del (p.Lys320fs) rs794727884
NM_173660.5(DOK7):c.957dup (p.Lys320fs) rs794727884
NM_173660.5(DOK7):c.958A>T (p.Lys320Ter)
NM_173660.5(DOK7):c.978_1018del (p.Gln326fs) rs2109417797

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