ClinVar Miner

List of variants in gene DAG1 studied for congenital vitreoretinal dysplasia

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 141
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HGVS dbSNP
NC_000003.12:g.(?_49530787)_(49533209_?)del
NM_001165928.3(DAG1):c.1111C>T (p.Arg371Trp)
NM_001165928.3(DAG1):c.1181G>A (p.Gly394Asp)
NM_001165928.3(DAG1):c.1287A>G (p.Val429=)
NM_001165928.3(DAG1):c.1752C>A (p.Gly584=)
NM_001165928.3(DAG1):c.1785C>T (p.Val595=)
NM_001165928.3(DAG1):c.1883_1887delinsACTTT (p.Ala628_Leu629delinsAspPhe) rs1559580384
NM_001165928.3(DAG1):c.1925G>A (p.Cys642Tyr)
NM_001165928.3(DAG1):c.2116A>G (p.Thr706Ala)
NM_001165928.3(DAG1):c.2140C>T (p.Arg714Trp)
NM_001165928.3(DAG1):c.2231G>C (p.Ser744Thr) rs114357468
NM_001165928.3(DAG1):c.227G>A (p.Arg76His)
NM_001165928.3(DAG1):c.229T>C (p.Ser77Pro)
NM_001165928.3(DAG1):c.2322C>T (p.Cys774=)
NM_001165928.3(DAG1):c.243C>G (p.Thr81=)
NM_001165928.3(DAG1):c.2451C>G (p.Leu817=)
NM_001165928.3(DAG1):c.2600C>T (p.Pro867Leu)
NM_001165928.3(DAG1):c.285+1G>A
NM_001165928.3(DAG1):c.286-4C>G
NM_001165928.3(DAG1):c.442A>T (p.Thr148Ser)
NM_001165928.3(DAG1):c.552G>A (p.Ala184=)
NM_001165928.3(DAG1):c.636C>T (p.His212=)
NM_001165928.3(DAG1):c.643C>T (p.Arg215Trp)
NM_001165928.3(DAG1):c.751del (p.Val251fs)
NM_001165928.3(DAG1):c.885G>A (p.Val295=)
NM_001165928.3(DAG1):c.910C>T (p.Pro304Ser)
NM_001165928.3(DAG1):c.920C>G (p.Pro307Arg)
NM_001165928.3(DAG1):c.971T>A (p.Ile324Asn)
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile) rs148759919
NM_004393.6(DAG1):c.1026C>T (p.Pro342=) rs1553652858
NM_004393.6(DAG1):c.1046C>T (p.Pro349Leu) rs200233956
NM_004393.6(DAG1):c.1051A>G (p.Thr351Ala) rs376991799
NM_004393.6(DAG1):c.1100C>T (p.Thr367Met)
NM_004393.6(DAG1):c.1182C>T (p.Gly394=)
NM_004393.6(DAG1):c.1186A>G (p.Thr396Ala) rs779846682
NM_004393.6(DAG1):c.1205G>A (p.Arg402His) rs537829489
NM_004393.6(DAG1):c.1205G>T (p.Arg402Leu) rs537829489
NM_004393.6(DAG1):c.1210A>G (p.Thr404Ala) rs769229834
NM_004393.6(DAG1):c.1212G>A (p.Thr404=) rs139781017
NM_004393.6(DAG1):c.1215G>A (p.Met405Ile) rs141238609
NM_004393.6(DAG1):c.1233G>A (p.Val411=) rs145765079
NM_004393.6(DAG1):c.1240A>T (p.Thr414Ser) rs768983113
NM_004393.6(DAG1):c.1280C>T (p.Pro427Leu) rs770985285
NM_004393.6(DAG1):c.1283G>A (p.Arg428Gln) rs780793711
NM_004393.6(DAG1):c.1306A>G (p.Thr436Ala) rs149838438
NM_004393.6(DAG1):c.1307C>T (p.Thr436Met) rs143573515
NM_004393.6(DAG1):c.1308G>A (p.Thr436=) rs143763229
NM_004393.6(DAG1):c.1360C>T (p.Arg454Trp) rs369872091
NM_004393.6(DAG1):c.1369C>T (p.Arg457Trp)
NM_004393.6(DAG1):c.1487G>T (p.Arg496Leu) rs199519832
NM_004393.6(DAG1):c.1489C>G (p.Pro497Ala) rs376508721
NM_004393.6(DAG1):c.148A>G (p.Met50Val) rs758104540
NM_004393.6(DAG1):c.1492_1494del (p.Glu498del) rs1553653093
NM_004393.6(DAG1):c.1535C>T (p.Thr512Ile) rs527867946
NM_004393.6(DAG1):c.1543G>A (p.Glu515Lys) rs142703906
NM_004393.6(DAG1):c.1641C>T (p.Gly547=) rs374490206
NM_004393.6(DAG1):c.1690C>A (p.Leu564Ile) rs199894361
NM_004393.6(DAG1):c.1701C>T (p.Ser567=) rs142579425
NM_004393.6(DAG1):c.1705C>T (p.His569Tyr) rs1559579950
NM_004393.6(DAG1):c.1708G>A (p.Val570Met) rs370669533
NM_004393.6(DAG1):c.1757C>T (p.Ser586Leu) rs371990100
NM_004393.6(DAG1):c.1773C>T (p.Phe591=) rs2229010
NM_004393.6(DAG1):c.1799A>G (p.Gln600Arg) rs369180031
NM_004393.6(DAG1):c.1826A>G (p.Lys609Arg) rs200798800
NM_004393.6(DAG1):c.1829C>T (p.Ala610Val)
NM_004393.6(DAG1):c.183T>C (p.Val61=) rs775928044
NM_004393.6(DAG1):c.1847C>T (p.Pro616Leu)
NM_004393.6(DAG1):c.185C>T (p.Pro62Leu) rs375938350
NM_004393.6(DAG1):c.1905C>T (p.Phe635=) rs577609846
NM_004393.6(DAG1):c.193G>A (p.Val65Ile) rs757379579
NM_004393.6(DAG1):c.1966G>A (p.Val656Met) rs1313375346
NM_004393.6(DAG1):c.1977G>A (p.Trp659Ter) rs1553653437
NM_004393.6(DAG1):c.2001G>T (p.Glu667Asp)
NM_004393.6(DAG1):c.2006G>T (p.Cys669Phe) rs797045023
NM_004393.6(DAG1):c.2023G>A (p.Ala675Thr)
NM_004393.6(DAG1):c.2036G>A (p.Arg679His) rs113904914
NM_004393.6(DAG1):c.2044G>A (p.Ala682Thr)
NM_004393.6(DAG1):c.2082C>T (p.Asn694=) rs146453412
NM_004393.6(DAG1):c.2100T>G (p.Phe700Leu) rs141697036
NM_004393.6(DAG1):c.2123C>T (p.Thr708Met) rs758254304
NM_004393.6(DAG1):c.2124G>A (p.Thr708=) rs140204495
NM_004393.6(DAG1):c.212C>A (p.Thr71Lys) rs142572135
NM_004393.6(DAG1):c.2141G>A (p.Arg714Gln) rs201488118
NM_004393.6(DAG1):c.2245G>A (p.Val749Ile) rs1559581311
NM_004393.6(DAG1):c.2271C>T (p.Ala757=) rs78281659
NM_004393.6(DAG1):c.2303G>T (p.Gly768Val) rs1553653701
NM_004393.6(DAG1):c.2313C>T (p.Ala771=) rs764289801
NM_004393.6(DAG1):c.2326C>T (p.Arg776Cys) rs752441031
NM_004393.6(DAG1):c.2336G>A (p.Arg779Gln)
NM_004393.6(DAG1):c.2342G>A (p.Gly781Asp)
NM_004393.6(DAG1):c.235C>T (p.Arg79Ter)
NM_004393.6(DAG1):c.2366C>T (p.Ala789Val) rs1426926145
NM_004393.6(DAG1):c.23C>T (p.Ser8Leu) rs199501149
NM_004393.6(DAG1):c.2415C>T (p.Asp805=) rs749427996
NM_004393.6(DAG1):c.2431C>T (p.Pro811Ser) rs368597067
NM_004393.6(DAG1):c.244A>G (p.Ile82Val) rs141706514
NM_004393.6(DAG1):c.2479C>T (p.Pro827Ser) rs141562264
NM_004393.6(DAG1):c.24G>A (p.Ser8=) rs1229832209
NM_004393.6(DAG1):c.2511C>T (p.Pro837=) rs778665335
NM_004393.6(DAG1):c.2512G>A (p.Glu838Lys)
NM_004393.6(DAG1):c.2520T>C (p.Thr840=) rs149564053
NM_004393.6(DAG1):c.2536A>C (p.Thr846Pro)
NM_004393.6(DAG1):c.2552C>T (p.Thr851Met)
NM_004393.6(DAG1):c.2561G>A (p.Arg854Gln) rs199933395
NM_004393.6(DAG1):c.2576A>G (p.Asn859Ser) rs754079735
NM_004393.6(DAG1):c.2588A>G (p.Tyr863Cys) rs1436774690
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) rs145403829
NM_004393.6(DAG1):c.259A>G (p.Ile87Val) rs116717961
NM_004393.6(DAG1):c.2635C>T (p.Arg879Cys)
NM_004393.6(DAG1):c.268A>G (p.Ser90Gly) rs140454570
NM_004393.6(DAG1):c.278T>C (p.Ile93Thr) rs149218670
NM_004393.6(DAG1):c.286-10del rs747305463
NM_004393.6(DAG1):c.294G>A (p.Ala98=) rs752506833
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107
NM_004393.6(DAG1):c.384G>T (p.Val128=) rs143829263
NM_004393.6(DAG1):c.402C>T (p.Ser134=) rs367603470
NM_004393.6(DAG1):c.41= (p.Ser14=) rs1553648360
NM_004393.6(DAG1):c.424G>A (p.Gly142Arg) rs749962207
NM_004393.6(DAG1):c.440del (p.Gln147fs) rs1553652503
NM_004393.6(DAG1):c.454_467del (p.Phe152fs) rs1553652513
NM_004393.6(DAG1):c.473C>T (p.Pro158Leu) rs368359780
NM_004393.6(DAG1):c.496T>G (p.Ser166Ala) rs1421891404
NM_004393.6(DAG1):c.510C>A (p.Ala170=)
NM_004393.6(DAG1):c.575C>T (p.Thr192Met) rs193922955
NM_004393.6(DAG1):c.576G>A (p.Thr192=)
NM_004393.6(DAG1):c.57C>T (p.Leu19=) rs768105958
NM_004393.6(DAG1):c.591C>T (p.Ala197=) rs768487898
NM_004393.6(DAG1):c.599C>G (p.Thr200Ser) rs41290704
NM_004393.6(DAG1):c.613A>G (p.Lys205Glu) rs145871499
NM_004393.6(DAG1):c.623T>C (p.Ile208Thr) rs772976299
NM_004393.6(DAG1):c.634C>A (p.His212Asn) rs146574353
NM_004393.6(DAG1):c.712A>G (p.Met238Val) rs148238809
NM_004393.6(DAG1):c.735G>A (p.Pro245=) rs748164001
NM_004393.6(DAG1):c.743del (p.Ala248fs) rs869320680
NM_004393.6(DAG1):c.829G>A (p.Val277Ile) rs375892170
NM_004393.6(DAG1):c.854C>T (p.Ala285Val)
NM_004393.6(DAG1):c.902A>G (p.Asn301Ser) rs745559790
NM_004393.6(DAG1):c.927C>T (p.Arg309=) rs551679833
NM_004393.6(DAG1):c.928G>A (p.Val310Ile)
NM_004393.6(DAG1):c.932G>A (p.Arg311Gln) rs752813826
NM_004393.6(DAG1):c.965C>T (p.Thr322Ile) rs376602004

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