ClinVar Miner

List of variants in gene ADGRV1 studied for Usher syndrome type 2C; Febrile seizures, familial, 4

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Gene type:
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Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys) rs10037067 0.33642
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu) rs4916685 0.32486
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=) rs16876822 0.31193
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser) rs2366926 0.31179
NM_032119.4(ADGRV1):c.6952-10G>A rs10040165 0.31172
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042 0.30112
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=) rs17554631 0.15645
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=) rs13158963 0.11513
NM_032119.4(ADGRV1):c.8730+10_8730+11insC rs377585302 0.06843
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) rs17543819 0.05741
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) rs61753944 0.02377
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) rs73175207 0.02358
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys) rs111033430 0.02235
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) rs61745498 0.02028
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939 0.01679
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=) rs77791584 0.01133
NM_032119.4(ADGRV1):c.1817A>C (p.Asn606Thr) rs61749567 0.00937
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470 0.00784
NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu) rs74632023 0.00712
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys) rs147062294 0.00492
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00429
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=) rs149459739 0.00414
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=) rs190981860 0.00381
NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=) rs116446814 0.00299
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405 0.00159
NM_032119.4(ADGRV1):c.16472G>A (p.Ser5491Asn) rs199796758 0.00113
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875 0.00086
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile) rs202110635 0.00083
NM_032119.4(ADGRV1):c.16841C>T (p.Thr5614Ile) rs149544995 0.00082
NM_032119.4(ADGRV1):c.6086C>T (p.Pro2029Leu) rs200854813 0.00074
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323 0.00061
NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys) rs376401006 0.00060
NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr) rs199833843 0.00060
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val) rs201963060 0.00056
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser) rs183633457 0.00047
NM_032119.4(ADGRV1):c.2241-10A>T rs150996234 0.00047
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) rs370906851 0.00039
NM_032119.4(ADGRV1):c.208-4A>G rs374070113 0.00034
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr) rs201391886 0.00034
NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg) rs200212083 0.00027
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr) rs143632883 0.00025
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys) rs201583659 0.00025
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys) rs182452385 0.00022
NM_032119.4(ADGRV1):c.2734+18T>G rs372642748 0.00022
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys) rs199499672 0.00021
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) rs138908576 0.00020
NM_032119.4(ADGRV1):c.2974A>G (p.Thr992Ala) rs368163419 0.00020
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253 0.00017
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn) rs201800819 0.00016
NM_032119.4(ADGRV1):c.14320C>T (p.Leu4774Phe) rs200685818 0.00015
NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met) rs201007778 0.00014
NM_032119.4(ADGRV1):c.8064C>T (p.Ser2688=) rs75195840 0.00013
NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys) rs200644004 0.00011
NM_032119.4(ADGRV1):c.12818A>G (p.His4273Arg) rs201480340 0.00011
NM_032119.4(ADGRV1):c.18710C>T (p.Thr6237Met) rs376428763 0.00011
NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu) rs200530343 0.00010
NM_032119.4(ADGRV1):c.8295G>T (p.Leu2765Phe) rs141681122 0.00010
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr) rs375632680 0.00009
NM_032119.4(ADGRV1):c.14973-2A>G rs371981035 0.00009
NM_032119.4(ADGRV1):c.16874C>T (p.Ser5625Leu) rs373862154 0.00009
NM_032119.4(ADGRV1):c.18629C>T (p.Pro6210Leu) rs749622020 0.00009
NM_032119.4(ADGRV1):c.2483T>C (p.Val828Ala) rs757135353 0.00008
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met) rs756414393 0.00007
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs) rs757696771 0.00006
NM_032119.4(ADGRV1):c.362C>T (p.Pro121Leu) rs200730114 0.00005
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe) rs376318779 0.00005
NM_032119.4(ADGRV1):c.12008T>C (p.Ile4003Thr) rs376911431 0.00004
NM_032119.4(ADGRV1):c.12335T>G (p.Leu4112Trp) rs550815037 0.00004
NM_032119.4(ADGRV1):c.12464C>T (p.Pro4155Leu) rs765063091 0.00004
NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr) rs376376418 0.00004
NM_032119.4(ADGRV1):c.3431G>A (p.Arg1144Gln) rs199735068 0.00004
NM_032119.4(ADGRV1):c.4714A>G (p.Asn1572Asp) rs370432538 0.00004
NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg) rs200974394 0.00004
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762 0.00004
NM_032119.4(ADGRV1):c.8369A>G (p.Tyr2790Cys) rs751129081 0.00004
NM_032119.4(ADGRV1):c.14303C>T (p.Ser4768Leu) rs200130204 0.00003
NM_032119.4(ADGRV1):c.449A>G (p.Asn150Ser) rs775440063 0.00003
NM_032119.4(ADGRV1):c.6730G>A (p.Val2244Ile) rs759954556 0.00003
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662 0.00002
NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter) rs747622607 0.00002
NM_032119.4(ADGRV1):c.17518T>C (p.Tyr5840His) rs757218098 0.00002
NM_032119.4(ADGRV1):c.17933A>G (p.His5978Arg) rs756460900 0.00002
NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr) rs376900429 0.00002
NM_032119.4(ADGRV1):c.7202T>C (p.Met2401Thr) rs997831285 0.00002
NM_032119.4(ADGRV1):c.8308T>C (p.Phe2770Leu) rs375272281 0.00002
NM_032119.4(ADGRV1):c.10466G>A (p.Gly3489Glu) rs780372483 0.00001
NM_032119.4(ADGRV1):c.1055C>T (p.Pro352Leu) rs765574676 0.00001
NM_032119.4(ADGRV1):c.10801A>G (p.Arg3601Gly) rs771934458 0.00001
NM_032119.4(ADGRV1):c.11410C>T (p.Arg3804Ter) rs767570081 0.00001
NM_032119.4(ADGRV1):c.12184C>T (p.Arg4062Trp) rs775426944 0.00001
NM_032119.4(ADGRV1):c.12631C>T (p.Arg4211Ter) rs727504777 0.00001
NM_032119.4(ADGRV1):c.13232-1G>A rs764583867 0.00001
NM_032119.4(ADGRV1):c.14546C>G (p.Thr4849Ser) rs755079950 0.00001
NM_032119.4(ADGRV1):c.14971C>T (p.Arg4991Ter) rs1233334494 0.00001
NM_032119.4(ADGRV1):c.17455-2A>T rs1279862720 0.00001
NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His) rs757860505 0.00001
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) rs373780305 0.00001
NM_032119.4(ADGRV1):c.3931A>G (p.Thr1311Ala) rs776663458 0.00001
NM_032119.4(ADGRV1):c.5266G>A (p.Glu1756Lys) rs1027911338 0.00001
NM_032119.4(ADGRV1):c.6705T>G (p.Phe2235Leu) rs777260815 0.00001
NM_032119.4(ADGRV1):c.7030G>T (p.Ala2344Ser) rs373807911 0.00001
NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter) rs758718347 0.00001
NM_032119.4(ADGRV1):c.8875C>T (p.Arg2959Ter) rs768035707 0.00001
NM_032119.4(ADGRV1):c.9623+1G>A rs749982150 0.00001
NM_032119.4(ADGRV1):c.9907-1G>A rs769286352 0.00001
NM_032119.4(ADGRV1):c.10172G>A (p.Trp3391Ter)
NM_032119.4(ADGRV1):c.10213C>T (p.Arg3405Ter) rs763670293
NM_032119.4(ADGRV1):c.10476_10479del (p.Phe3493fs) rs1260874342
NM_032119.4(ADGRV1):c.10517delinsCTGT (p.Arg3506delinsThrVal)
NM_032119.4(ADGRV1):c.11115A>T (p.Ser3705=) rs138029547
NM_032119.4(ADGRV1):c.11547_11550del (p.Ile3849fs) rs1471607090
NM_032119.4(ADGRV1):c.11757+2T>C
NM_032119.4(ADGRV1):c.12350_12353dup (p.Phe4118fs)
NM_032119.4(ADGRV1):c.1239-1G>T rs373015808
NM_032119.4(ADGRV1):c.12542del (p.Pro4181fs)
NM_032119.4(ADGRV1):c.13544G>A (p.Gly4515Glu)
NM_032119.4(ADGRV1):c.13568G>C (p.Ser4523Thr)
NM_032119.4(ADGRV1):c.13622dup (p.Arg4542fs) rs1759155995
NM_032119.4(ADGRV1):c.14404C>T (p.Arg4802Ter) rs1236715896
NM_032119.4(ADGRV1):c.14455_14456del (p.Arg4819fs)
NM_032119.4(ADGRV1):c.14719G>T (p.Val4907Phe) rs373391623
NM_032119.4(ADGRV1):c.14854dup (p.His4952fs) rs1762027044
NM_032119.4(ADGRV1):c.15899C>G (p.Thr5300Ser)
NM_032119.4(ADGRV1):c.17187C>A (p.Cys5729Ter)
NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs) rs727504644
NM_032119.4(ADGRV1):c.17386C>T (p.Gln5796Ter)
NM_032119.4(ADGRV1):c.17576G>A (p.Trp5859Ter)
NM_032119.4(ADGRV1):c.17756-1G>A
NM_032119.4(ADGRV1):c.18803G>A (p.Gly6268Asp)
NM_032119.4(ADGRV1):c.1969A>C (p.Asn657His)
NM_032119.4(ADGRV1):c.2017-1G>A
NM_032119.4(ADGRV1):c.2277T>A (p.Tyr759Ter) rs1185617030
NM_032119.4(ADGRV1):c.2503G>A (p.Glu835Lys) rs2149429894
NM_032119.4(ADGRV1):c.2612del (p.Gly871fs) rs983340336
NM_032119.4(ADGRV1):c.2898G>T (p.Glu966Asp)
NM_032119.4(ADGRV1):c.3364dup (p.Ser1122fs)
NM_032119.4(ADGRV1):c.3416+7A>G
NM_032119.4(ADGRV1):c.3908dup (p.Leu1303fs)
NM_032119.4(ADGRV1):c.4371dup (p.Thr1458fs)
NM_032119.4(ADGRV1):c.4571C>G (p.Ser1524Ter)
NM_032119.4(ADGRV1):c.4753-1G>T
NM_032119.4(ADGRV1):c.4837del (p.Ser1613fs)
NM_032119.4(ADGRV1):c.5314-2A>G
NM_032119.4(ADGRV1):c.559-1G>A
NM_032119.4(ADGRV1):c.582del (p.Asp195fs)
NM_032119.4(ADGRV1):c.6491-1G>A
NM_032119.4(ADGRV1):c.6642_6648dup (p.Ala2217fs)
NM_032119.4(ADGRV1):c.7571T>A (p.Val2524Glu) rs191036195
NM_032119.4(ADGRV1):c.7602G>C (p.Met2534Ile)
NM_032119.4(ADGRV1):c.7858G>A (p.Val2620Met)
NM_032119.4(ADGRV1):c.8471G>C (p.Gly2824Ala) rs975296721
NM_032119.4(ADGRV1):c.8488C>G (p.Leu2830Val) rs555466095
NM_032119.4(ADGRV1):c.9052T>C (p.Phe3018Leu) rs769373495
NM_032119.4(ADGRV1):c.956dup (p.Asn319fs) rs752179149
NM_032119.4(ADGRV1):c.9596dup (p.Phe3200fs)

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