ClinVar Miner

List of variants in gene ADGRV1 studied for Usher syndrome type 2C

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
Download table as spreadsheet
HGVS dbSNP
NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del
NG_007083.1:g.371658_507674del
NM_032119.3(ADGRV1):c.(?_4379)_(4752_?)del (p.(?))
NM_032119.3(ADGRV1):c.10060_10063delACAA (p.Thr3354Serfs) rs727504978
NM_032119.3(ADGRV1):c.10426G>A (p.Gly3476Arg) rs1060499795
NM_032119.3(ADGRV1):c.1239-8C>G rs869312178
NM_032119.3(ADGRV1):c.12403+1G>T rs527236132
NM_032119.3(ADGRV1):c.12436C>T (p.Arg4146Ter) rs369793306
NM_032119.3(ADGRV1):c.12704A>G (p.Tyr4235Cys) rs200644004
NM_032119.3(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662
NM_032119.3(ADGRV1):c.13358A>G (p.His4453Arg) rs200212083
NM_032119.3(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253
NM_032119.3(ADGRV1):c.14303C>T (p.Ser4768Leu) rs200130204
NM_032119.3(ADGRV1):c.14365C>T (p.Arg4789Trp) rs1131691924
NM_032119.3(ADGRV1):c.14719G>T (p.Val4907Phe) rs373391623
NM_032119.3(ADGRV1):c.14973-2A>G rs371981035
NM_032119.3(ADGRV1):c.15169C>T (p.Pro5057Ser) rs183633457
NM_032119.3(ADGRV1):c.15736C>T (p.Arg5246Ter) rs527236131
NM_032119.3(ADGRV1):c.1608C>G (p.Tyr536Ter)
NM_032119.3(ADGRV1):c.1701delC (p.Leu568Cysfs) rs876657695
NM_032119.3(ADGRV1):c.17062C>T (p.Arg5688Ter) rs747622607
NM_032119.3(ADGRV1):c.17303_17315delGAGATTACATTCG (p.Gly5768Glufs) rs727504644
NM_032119.3(ADGRV1):c.17662delT (p.Ser5888Hisfs) rs397517426
NM_032119.3(ADGRV1):c.17992G>A (p.Val5998Met) rs557989446
NM_032119.3(ADGRV1):c.18131A>G (p.Tyr6044Cys) rs121909763
NM_032119.3(ADGRV1):c.18732_18750del (p.Tyr6244Terfs) rs796051865
NM_032119.3(ADGRV1):c.2258_2270delAAGTGCTGAAATC (p.Gln753Leufs) rs796051866
NM_032119.3(ADGRV1):c.2302G>T (p.Glu768Ter) rs1554068885
NM_032119.3(ADGRV1):c.2898G>A (p.Glu966=) rs1060499796
NM_032119.3(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875
NM_032119.3(ADGRV1):c.3775T>A (p.Ser1259Thr) rs376900429
NM_032119.3(ADGRV1):c.4108T>G (p.Phe1370Val)
NM_032119.3(ADGRV1):c.5357_5358del (p.Lys1786Ilefs) rs796051867
NM_032119.3(ADGRV1):c.5576A>G (p.His1859Arg) rs200974394
NM_032119.3(ADGRV1):c.5643delG (p.Tyr1882Ilefs) rs727503076
NM_032119.3(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762
NM_032119.3(ADGRV1):c.6952G>T (p.Val2318Phe) rs1338945655
NM_032119.3(ADGRV1):c.7006C>T (p.Arg2336Ter) rs527236133
NM_032119.3(ADGRV1):c.7374_7375delTG (p.Glu2459Glyfs) rs397517435
NM_032119.3(ADGRV1):c.7406G>A (p.Trp2469Ter) rs397517436
NM_032119.3(ADGRV1):c.7606G>T (p.Glu2536Ter) rs886039893
NM_032119.3(ADGRV1):c.7873C>T (p.Arg2625Cys) rs201583659
NM_032119.3(ADGRV1):c.8110A>T (p.Ile2704Phe) rs376318779
NM_032119.3(ADGRV1):c.8737delG (p.Val2913Tyrfs) rs397517441
NM_032119.3(ADGRV1):c.8790del (p.Met2931Trpfs) rs796051864
NM_032119.3(ADGRV1):c.9643G>A (p.Glu3215Lys) rs199499672
NM_032119.3(ADGRV1):c.9877C>T (p.Arg3293Ter) rs769215629
NM_032119.3:c.16079-1455_c.16196+155del
NM_032119.4(ADGRV1):c.(?_18153)-15_*(15_?)del
NM_032119.4(ADGRV1):c.10229_10231dup (p.Val3410_Ala3411insVal) rs397517418
NM_032119.4(ADGRV1):c.10727A>G (p.Tyr3576Cys)
NM_032119.4(ADGRV1):c.11122-1G>C
NM_032119.4(ADGRV1):c.11253C>G (p.Tyr3751Ter) rs376689763
NM_032119.4(ADGRV1):c.12101T>G (p.Phe4034Cys) rs876657647
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr) rs375632680
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323
NM_032119.4(ADGRV1):c.12222G>A (p.Trp4074Ter)
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) rs138908576
NM_032119.4(ADGRV1):c.12631C>T (p.Arg4211Ter) rs727504777
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys) rs182452385
NM_032119.4(ADGRV1):c.14885G>A (p.Trp4962Ter) rs876657694
NM_032119.4(ADGRV1):c.15353G>A (p.Ser5118Asn)
NM_032119.4(ADGRV1):c.16114G>T (p.Glu5372Ter)
NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter)
NM_032119.4(ADGRV1):c.16197-1G>T
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) rs370906851
NM_032119.4(ADGRV1):c.17200G>T (p.Glu5734Ter)
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile) rs202110635
NM_032119.4(ADGRV1):c.2320G>T (p.Gly774Ter)
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) rs373780305
NM_032119.4(ADGRV1):c.2870dup (p.Asn957Lysfs) rs397517429
NM_032119.4(ADGRV1):c.3203G>A (p.Arg1068Lys)
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met) rs756414393
NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys) rs376401006
NM_032119.4(ADGRV1):c.5779_5783dup (p.Ser1928Argfs) rs730880369
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504
NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter) rs758718347
NM_032119.4(ADGRV1):c.7571T>A (p.Val2524Glu) rs191036195
NM_032119.4(ADGRV1):c.7885G>T (p.Gly2629Ter)
NM_032119.4(ADGRV1):c.8369A>G (p.Tyr2790Cys) rs751129081
NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906Lysfs) rs796051863
NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr) rs199833843
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.