ClinVar Miner

List of variants reported as uncertain significance for Usher syndrome type 2C

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 391
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HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00844
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val) rs72782753 0.00500
NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser) rs148097083 0.00484
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00484
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868 0.00467
NM_032119.4(ADGRV1):c.6320A>C (p.Gln2107Pro) rs181475191 0.00421
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455 0.00391
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892 0.00378
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743 0.00372
NM_032119.4(ADGRV1):c.*259A>G rs147905321 0.00365
NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg) rs41311625 0.00324
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val) rs186999408 0.00271
NM_032119.4(ADGRV1):c.17856+11G>A rs187039736 0.00270
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala) rs61754947 0.00245
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=) rs148932387 0.00242
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646 0.00231
NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val) rs199873924 0.00221
NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=) rs143004930 0.00205
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr) rs145556097 0.00195
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala) rs190922596 0.00195
NM_032119.4(ADGRV1):c.12527+6G>T rs141701016 0.00192
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala) rs113498662 0.00189
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His) rs201214794 0.00187
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu) rs61744480 0.00177
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405 0.00159
NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=) rs61999270 0.00151
NM_032119.4(ADGRV1):c.15669G>A (p.Gly5223=) rs61741955 0.00145
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=) rs113938044 0.00140
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=) rs183447491 0.00135
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=) rs184127858 0.00131
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=) rs186639101 0.00126
NM_032119.4(ADGRV1):c.2119A>T (p.Ile707Leu) rs200897149 0.00125
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=) rs144269892 0.00121
NM_032119.4(ADGRV1):c.207+3A>G rs142356935 0.00119
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898 0.00104
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297 0.00088
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875 0.00086
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=) rs371831553 0.00086
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile) rs202110635 0.00083
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val) rs202064612 0.00083
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219 0.00083
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met) rs557989446 0.00078
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln) rs202190568 0.00074
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys) rs200392821 0.00067
NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=) rs200435877 0.00062
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.1837C>A (p.Gln613Lys) rs199587998 0.00059
NM_032119.4(ADGRV1):c.4128C>T (p.Asp1376=) rs373730163 0.00056
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val) rs201963060 0.00056
NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr) rs200576500 0.00053
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala) rs201890097 0.00053
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=) rs182990046 0.00049
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=) rs376298949 0.00048
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser) rs183633457 0.00047
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872 0.00046
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly) rs200197273 0.00046
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln) rs201747452 0.00045
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) rs200955930 0.00044
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) rs370906851 0.00039
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly) rs202106463 0.00038
NM_032119.4(ADGRV1):c.6975T>C (p.Asp2325=) rs202030777 0.00038
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504 0.00037
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563 0.00036
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=) rs376636949 0.00036
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658 0.00036
NM_001195263.2(PDZD7):c.2680T>C (p.Phe894Leu) rs571203897 0.00035
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu) rs201388114 0.00035
NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg) rs190988309 0.00034
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr) rs201391886 0.00034
NM_032119.4(ADGRV1):c.8824+10G>A rs180693049 0.00034
NM_032119.4(ADGRV1):c.*101T>C rs41315918 0.00031
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile) rs61745496 0.00031
NM_032119.4(ADGRV1):c.-44C>T rs192362302 0.00029
NM_032119.4(ADGRV1):c.14466G>A (p.Val4822=) rs117641264 0.00029
NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg) rs200212083 0.00027
NM_032119.4(ADGRV1):c.14005T>C (p.Phe4669Leu) rs199792315 0.00027
NM_032119.4(ADGRV1):c.3022+8T>C rs375286987 0.00027
NM_032119.4(ADGRV1):c.13153A>G (p.Ile4385Val) rs200584854 0.00026
NM_032119.4(ADGRV1):c.13722C>T (p.Asp4574=) rs367768061 0.00026
NM_032119.4(ADGRV1):c.13186G>A (p.Ala4396Thr) rs201154290 0.00025
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.10527C>T (p.Ser3509=) rs201475256 0.00022
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys) rs182452385 0.00022
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His) rs202067248 0.00021
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.10550-7C>T rs191228562 0.00019
NM_032119.4(ADGRV1):c.11579C>T (p.Pro3860Leu) rs759908554 0.00019
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567 0.00019
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys) rs146526977 0.00019
NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=) rs146082509 0.00018
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253 0.00017
NM_032119.4(ADGRV1):c.686A>G (p.Asp229Gly) rs200541858 0.00017
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=) rs201089046 0.00017
NM_032119.4(ADGRV1):c.10228G>A (p.Val3410Met) rs1996552 0.00016
NM_032119.4(ADGRV1):c.11745T>C (p.Phe3915=) rs201453118 0.00016
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.15497C>T (p.Thr5166Met) rs375860783 0.00015
NM_032119.4(ADGRV1):c.1317C>T (p.Ser439=) rs368171530 0.00014
NM_032119.4(ADGRV1):c.16699G>A (p.Val5567Ile) rs201677553 0.00014
NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met) rs201007778 0.00014
NM_032119.4(ADGRV1):c.5265G>A (p.Ala1755=) rs189232336 0.00014
NM_032119.4(ADGRV1):c.1510-7A>T rs182260529 0.00013
NM_032119.4(ADGRV1):c.5264C>T (p.Ala1755Val) rs185971062 0.00013
NM_032119.4(ADGRV1):c.8034T>G (p.Thr2678=) rs200712751 0.00013
NM_032119.4(ADGRV1):c.12476A>C (p.His4159Pro) rs200805176 0.00012
NM_032119.4(ADGRV1):c.13293T>C (p.Tyr4431=) rs375468899 0.00012
NM_032119.4(ADGRV1):c.7519A>G (p.Thr2507Ala) rs368806892 0.00012
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.13496G>A (p.Arg4499His) rs375122809 0.00011
NM_032119.4(ADGRV1):c.18710C>T (p.Thr6237Met) rs376428763 0.00011
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp) rs200389929 0.00011
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr) rs771410054 0.00011
NM_032119.4(ADGRV1):c.4770A>G (p.Ser1590=) rs144401211 0.00011
NM_032119.4(ADGRV1):c.6228C>T (p.Ile2076=) rs376325671 0.00011
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala) rs111033517 0.00011
NM_032119.4(ADGRV1):c.1411G>C (p.Val471Leu) rs190427962 0.00010
NM_032119.4(ADGRV1):c.155G>A (p.Arg52His) rs199798095 0.00010
NM_032119.4(ADGRV1):c.15829C>T (p.Arg5277Cys) rs375450242 0.00010
NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu) rs200530343 0.00010
NM_032119.4(ADGRV1):c.18906C>T (p.Ala6302=) rs369528456 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.16874C>T (p.Ser5625Leu) rs373862154 0.00009
NM_032119.4(ADGRV1):c.18629C>T (p.Pro6210Leu) rs749622020 0.00009
NM_032119.4(ADGRV1):c.*193G>A rs369242510 0.00008
NM_032119.4(ADGRV1):c.1071G>A (p.Ser357=) rs756805245 0.00008
NM_032119.4(ADGRV1):c.13550T>C (p.Ile4517Thr) rs748263327 0.00008
NM_032119.4(ADGRV1):c.2483T>C (p.Val828Ala) rs757135353 0.00008
NM_032119.4(ADGRV1):c.5657C>G (p.Thr1886Arg) rs199959482 0.00008
NM_032119.4(ADGRV1):c.9448-14G>A rs370196445 0.00008
NM_032119.4(ADGRV1):c.10614A>G (p.Gln3538=) rs182626712 0.00007
NM_032119.4(ADGRV1):c.17033G>C (p.Gly5678Ala) rs754164679 0.00007
NM_032119.4(ADGRV1):c.18153-13A>T rs750471995 0.00007
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met) rs756414393 0.00007
NM_032119.4(ADGRV1):c.3993C>T (p.Thr1331=) rs566196345 0.00007
NM_032119.4(ADGRV1):c.6951+13G>A rs143356203 0.00007
NM_032119.4(ADGRV1):c.12586C>T (p.Pro4196Ser) rs397517420 0.00006
NM_032119.4(ADGRV1):c.12786C>T (p.Ser4262=) rs201777525 0.00006
NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln) rs534266547 0.00006
NM_032119.4(ADGRV1):c.17075A>G (p.Tyr5692Cys) rs746621216 0.00006
NM_032119.4(ADGRV1):c.17204+4A>G rs376691612 0.00006
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser) rs200058876 0.00006
NM_032119.4(ADGRV1):c.3203G>A (p.Arg1068Lys) rs202151375 0.00006
NM_032119.4(ADGRV1):c.6849C>T (p.Gly2283=) rs374348614 0.00006
NM_001195263.2(PDZD7):c.562C>A (p.Arg188Ser) rs368583838 0.00005
NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln) rs368026275 0.00005
NM_032119.4(ADGRV1):c.13340G>A (p.Gly4447Asp) rs532839486 0.00005
NM_032119.4(ADGRV1):c.13996A>G (p.Ile4666Val) rs765672841 0.00005
NM_032119.4(ADGRV1):c.16308C>T (p.Thr5436=) rs137853917 0.00005
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp) rs376505416 0.00005
NM_032119.4(ADGRV1):c.170G>A (p.Arg57Lys) rs956307189 0.00005
NM_032119.4(ADGRV1):c.18217G>A (p.Val6073Met) rs377173958 0.00005
NM_032119.4(ADGRV1):c.18228C>T (p.Phe6076=) rs562067191 0.00005
NM_032119.4(ADGRV1):c.362C>T (p.Pro121Leu) rs200730114 0.00005
NM_032119.4(ADGRV1):c.3996A>G (p.Gly1332=) rs763406021 0.00005
NM_032119.4(ADGRV1):c.5522G>A (p.Arg1841His) rs757053598 0.00005
NM_032119.4(ADGRV1):c.5574C>A (p.Asp1858Glu) rs771317730 0.00005
NM_032119.4(ADGRV1):c.7527A>G (p.Gln2509=) rs772103054 0.00005
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe) rs376318779 0.00005
NM_032119.4(ADGRV1):c.*17C>T rs767529084 0.00004
NM_032119.4(ADGRV1):c.11760C>T (p.Gly3920=) rs374165491 0.00004
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.14043+7C>T rs563519322 0.00004
NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr) rs376376418 0.00004
NM_032119.4(ADGRV1):c.15394G>A (p.Gly5132Arg) rs199579753 0.00004
NM_032119.4(ADGRV1):c.17667C>G (p.His5889Gln) rs56382582 0.00004
NM_032119.4(ADGRV1):c.18519G>T (p.Gly6173=) rs752223599 0.00004
NM_032119.4(ADGRV1):c.2330A>C (p.Glu777Ala) rs78627723 0.00004
NM_032119.4(ADGRV1):c.2590G>A (p.Gly864Arg) rs572283380 0.00004
NM_032119.4(ADGRV1):c.3180G>A (p.Thr1060=) rs201516498 0.00004
NM_032119.4(ADGRV1):c.3431G>A (p.Arg1144Gln) rs199735068 0.00004
NM_032119.4(ADGRV1):c.4171G>A (p.Glu1391Lys) rs766007827 0.00004
NM_032119.4(ADGRV1):c.4714A>G (p.Asn1572Asp) rs370432538 0.00004
NM_032119.4(ADGRV1):c.4851T>C (p.Thr1617=) rs368303691 0.00004
NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg) rs200974394 0.00004
NM_032119.4(ADGRV1):c.6795C>T (p.Leu2265=) rs760814922 0.00004
NM_032119.4(ADGRV1):c.7684C>A (p.Gln2562Lys) rs746214033 0.00004
NM_032119.4(ADGRV1):c.8369A>G (p.Tyr2790Cys) rs751129081 0.00004
NM_001195263.2(PDZD7):c.257C>T (p.Ser86Leu) rs761666704 0.00003
NM_032119.4(ADGRV1):c.*124C>T rs547829526 0.00003
NM_032119.4(ADGRV1):c.*270C>A rs1415320521 0.00003
NM_032119.4(ADGRV1):c.12542C>T (p.Pro4181Leu) rs200957385 0.00003
NM_032119.4(ADGRV1):c.14303C>T (p.Ser4768Leu) rs200130204 0.00003
NM_032119.4(ADGRV1):c.1578G>T (p.Gln526His) rs199701878 0.00003
NM_032119.4(ADGRV1):c.15830G>A (p.Arg5277His) rs747856236 0.00003
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306 0.00003
NM_032119.4(ADGRV1):c.16439G>A (p.Ser5480Asn) rs772117132 0.00003
NM_032119.4(ADGRV1):c.16999A>G (p.Met5667Val) rs201767389 0.00003
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His) rs201073459 0.00003
NM_032119.4(ADGRV1):c.17595-4C>T rs762535387 0.00003
NM_032119.4(ADGRV1):c.1854G>A (p.Glu618=) rs376904160 0.00003
NM_032119.4(ADGRV1):c.2039A>G (p.Asp680Gly) rs547076322 0.00003
NM_032119.4(ADGRV1):c.267C>T (p.Ala89=) rs759771981 0.00003
NM_032119.4(ADGRV1):c.3928A>C (p.Thr1310Pro) rs771051473 0.00003
NM_032119.4(ADGRV1):c.4118C>T (p.Ala1373Val) rs187139957 0.00003
NM_032119.4(ADGRV1):c.449A>G (p.Asn150Ser) rs775440063 0.00003
NM_032119.4(ADGRV1):c.4878C>T (p.Asp1626=) rs755906427 0.00003
NM_032119.4(ADGRV1):c.5313+4A>G rs748976832 0.00003
NM_032119.4(ADGRV1):c.5665G>A (p.Val1889Ile) rs760468429 0.00003
NM_032119.4(ADGRV1):c.6730G>A (p.Val2244Ile) rs759954556 0.00003
NM_032119.4(ADGRV1):c.8386+12T>C rs780022610 0.00003
NM_032119.4(ADGRV1):c.10362A>G (p.Thr3454=) rs1325751815 0.00002
NM_032119.4(ADGRV1):c.10727A>G (p.Tyr3576Cys) rs778286042 0.00002
NM_032119.4(ADGRV1):c.10820T>C (p.Val3607Ala) rs566526160 0.00002
NM_032119.4(ADGRV1):c.11954T>C (p.Ile3985Thr) rs78833918 0.00002
NM_032119.4(ADGRV1):c.12536G>A (p.Arg4179Gln) rs201743191 0.00002
NM_032119.4(ADGRV1):c.1367T>C (p.Leu456Pro) rs774659694 0.00002
NM_032119.4(ADGRV1):c.15009C>T (p.Gly5003=) rs375195936 0.00002
NM_032119.4(ADGRV1):c.16826A>T (p.Asp5609Val) rs755988055 0.00002
NM_032119.4(ADGRV1):c.17518T>C (p.Tyr5840His) rs757218098 0.00002
NM_032119.4(ADGRV1):c.18348C>T (p.Ser6116=) rs774124713 0.00002
NM_032119.4(ADGRV1):c.18479G>T (p.Cys6160Phe) rs1242164038 0.00002
NM_032119.4(ADGRV1):c.18711G>A (p.Thr6237=) rs749201239 0.00002
NM_032119.4(ADGRV1):c.2926G>A (p.Val976Ile) rs752969941 0.00002
NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr) rs376900429 0.00002
NM_032119.4(ADGRV1):c.3969T>C (p.Ser1323=) rs1175349754 0.00002
NM_032119.4(ADGRV1):c.4952A>G (p.Asp1651Gly) rs746118976 0.00002
NM_032119.4(ADGRV1):c.6313A>G (p.Ile2105Val) rs371849392 0.00002
NM_032119.4(ADGRV1):c.6772A>G (p.Ile2258Val) rs745642201 0.00002
NM_032119.4(ADGRV1):c.7202T>C (p.Met2401Thr) rs997831285 0.00002
NM_032119.4(ADGRV1):c.7264C>T (p.Leu2422Phe) rs748779747 0.00002
NM_032119.4(ADGRV1):c.8308T>C (p.Phe2770Leu) rs375272281 0.00002
NM_032119.4(ADGRV1):c.8778C>T (p.Tyr2926=) rs375310575 0.00002
NM_032119.4(ADGRV1):c.10053+9A>G rs574636636 0.00001
NM_032119.4(ADGRV1):c.10267A>G (p.Ile3423Val) rs747192045 0.00001
NM_032119.4(ADGRV1):c.10308A>T (p.Arg3436Ser) rs559004744 0.00001
NM_032119.4(ADGRV1):c.10440A>T (p.Ser3480=) rs781252270 0.00001
NM_032119.4(ADGRV1):c.10466G>A (p.Gly3489Glu) rs780372483 0.00001
NM_032119.4(ADGRV1):c.10801A>G (p.Arg3601Gly) rs771934458 0.00001
NM_032119.4(ADGRV1):c.11390C>T (p.Thr3797Ile) rs375025827 0.00001
NM_032119.4(ADGRV1):c.11457A>G (p.Gln3819=) rs1312477726 0.00001
NM_032119.4(ADGRV1):c.12184C>T (p.Arg4062Trp) rs775426944 0.00001
NM_032119.4(ADGRV1):c.12222G>A (p.Trp4074Ter) rs1366388721 0.00001
NM_032119.4(ADGRV1):c.12425G>A (p.Arg4142Gln) rs1047782967 0.00001
NM_032119.4(ADGRV1):c.12489G>C (p.Gly4163=) rs727503080 0.00001
NM_032119.4(ADGRV1):c.1252A>G (p.Thr418Ala) rs749595916 0.00001
NM_032119.4(ADGRV1):c.1309C>T (p.Arg437Trp) rs765063390 0.00001
NM_032119.4(ADGRV1):c.13227C>T (p.Phe4409=) rs368497021 0.00001
NM_032119.4(ADGRV1):c.13433+9A>G rs186025461 0.00001
NM_032119.4(ADGRV1):c.137C>T (p.Thr46Ile) rs754162988 0.00001
NM_032119.4(ADGRV1):c.13868C>T (p.Ser4623Phe) rs766619723 0.00001
NM_032119.4(ADGRV1):c.1419T>G (p.Asp473Glu) rs771484121 0.00001
NM_032119.4(ADGRV1):c.14546C>G (p.Thr4849Ser) rs755079950 0.00001
NM_032119.4(ADGRV1):c.15498G>A (p.Thr5166=) rs745385503 0.00001
NM_032119.4(ADGRV1):c.15560C>T (p.Ala5187Val) rs758664211 0.00001
NM_032119.4(ADGRV1):c.15583C>T (p.Leu5195Phe) rs1460870267 0.00001
NM_032119.4(ADGRV1):c.1707A>C (p.Gln569His) rs1765206666 0.00001
NM_032119.4(ADGRV1):c.17204+12T>C rs1766179569 0.00001
NM_032119.4(ADGRV1):c.18094T>C (p.Leu6032=) rs766197164 0.00001
NM_032119.4(ADGRV1):c.18515A>G (p.Asn6172Ser) rs774995411 0.00001
NM_032119.4(ADGRV1):c.18610G>A (p.Gly6204Ser) rs745735875 0.00001
NM_032119.4(ADGRV1):c.199A>G (p.Ile67Val) rs1463493906 0.00001
NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His) rs757860505 0.00001
NM_032119.4(ADGRV1):c.2340T>C (p.Pro780=) rs1486650258 0.00001
NM_032119.4(ADGRV1):c.2409G>T (p.Gly803=) rs746915145 0.00001
NM_032119.4(ADGRV1):c.2539G>A (p.Asp847Asn) rs1487161620 0.00001
NM_032119.4(ADGRV1):c.2666T>C (p.Ile889Thr) rs780130028 0.00001
NM_032119.4(ADGRV1):c.3129G>A (p.Gly1043=) rs753443586 0.00001
NM_032119.4(ADGRV1):c.3133G>C (p.Ala1045Pro) rs372262361 0.00001
NM_032119.4(ADGRV1):c.3185T>C (p.Ile1062Thr) rs1018814935 0.00001
NM_032119.4(ADGRV1):c.3338C>A (p.Ala1113Asp) rs750334086 0.00001
NM_032119.4(ADGRV1):c.3346G>T (p.Asp1116Tyr) rs761253411 0.00001
NM_032119.4(ADGRV1):c.3931A>G (p.Thr1311Ala) rs776663458 0.00001
NM_032119.4(ADGRV1):c.4119G>A (p.Ala1373=) rs111033484 0.00001
NM_032119.4(ADGRV1):c.4168A>G (p.Asn1390Asp) rs794727329 0.00001
NM_032119.4(ADGRV1):c.4378+11T>C rs1225844494 0.00001
NM_032119.4(ADGRV1):c.5207A>G (p.Asp1736Gly) rs773201854 0.00001
NM_032119.4(ADGRV1):c.5521C>T (p.Arg1841Cys) rs367621359 0.00001
NM_032119.4(ADGRV1):c.6062T>C (p.Met2021Thr) rs1745278727 0.00001
NM_032119.4(ADGRV1):c.6235C>T (p.Leu2079Phe) rs529727564 0.00001
NM_032119.4(ADGRV1):c.6469G>A (p.Val2157Met) rs144723817 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.7334A>G (p.Lys2445Arg) rs762036043 0.00001
NM_032119.4(ADGRV1):c.7400C>T (p.Thr2467Ile) rs1746861436 0.00001
NM_032119.4(ADGRV1):c.7464G>C (p.Arg2488Ser) rs766683035 0.00001
NM_032119.4(ADGRV1):c.7754T>C (p.Ile2585Thr) rs1229881653 0.00001
NM_032119.4(ADGRV1):c.777T>C (p.Asn259=) rs775845081 0.00001
NM_032119.4(ADGRV1):c.7866C>T (p.Val2622=) rs756284324 0.00001
NM_032119.4(ADGRV1):c.8068A>G (p.Thr2690Ala) rs765530046 0.00001
NM_032119.4(ADGRV1):c.8169A>G (p.Gln2723=) rs1026514423 0.00001
NM_032119.4(ADGRV1):c.8287-1G>C rs1359811582 0.00001
NM_032119.4(ADGRV1):c.8668A>G (p.Ile2890Val) rs768539100 0.00001
NM_032119.4(ADGRV1):c.8769T>C (p.Asn2923=) rs753086932 0.00001
NM_032119.4(ADGRV1):c.9181A>G (p.Ile3061Val) rs759038879 0.00001
NM_032119.4(ADGRV1):c.9314G>A (p.Arg3105Gln) rs762116905 0.00001
NM_032119.4(ADGRV1):c.940G>A (p.Ala314Thr) rs533540279 0.00001
NM_032119.4(ADGRV1):c.961G>T (p.Asp321Tyr) rs779442763 0.00001
NM_032119.4(ADGRV1):c.9765G>A (p.Val3255=) rs1051488396 0.00001
NM_032119.4(ADGRV1):c.9992A>G (p.Asn3331Ser) rs757644038 0.00001
NM_001195263.2(PDZD7):c.2432G>A (p.Arg811His) rs1852354254
NM_001195263.2(PDZD7):c.598G>A (p.Asp200Asn) rs145910584
NM_032119.4(ADGRV1):c.*18G>C rs368671859
NM_032119.4(ADGRV1):c.10264G>C (p.Ala3422Pro) rs2149812991
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) rs1060499795
NM_032119.4(ADGRV1):c.10517G>A (p.Arg3506Lys) rs764955627
NM_032119.4(ADGRV1):c.10974G>C (p.Gln3658His) rs794727754
NM_032119.4(ADGRV1):c.11458C>A (p.Pro3820Thr) rs2149973588
NM_032119.4(ADGRV1):c.11950A>G (p.Met3984Val) rs1756212683
NM_032119.4(ADGRV1):c.12291G>A (p.Glu4097=) rs1757979533
NM_032119.4(ADGRV1):c.12356C>T (p.Thr4119Ile) rs1757987875
NM_032119.4(ADGRV1):c.12479T>A (p.Ile4160Asn) rs1455010773
NM_032119.4(ADGRV1):c.12641A>G (p.Gln4214Arg) rs1758428874
NM_032119.4(ADGRV1):c.12830G>T (p.Arg4277Leu) rs571603222
NM_032119.4(ADGRV1):c.13305T>G (p.Asp4435Glu) rs769915981
NM_032119.4(ADGRV1):c.13718C>T (p.Ala4573Val) rs749839670
NM_032119.4(ADGRV1):c.13838A>G (p.His4613Arg) rs775508830
NM_032119.4(ADGRV1):c.13897C>T (p.Gln4633Ter) rs1338081758
NM_032119.4(ADGRV1):c.14363C>T (p.Thr4788Ile) rs1194443703
NM_032119.4(ADGRV1):c.14427A>G (p.Glu4809=) rs727504605
NM_032119.4(ADGRV1):c.14494G>A (p.Asp4832Asn) rs2150136010
NM_032119.4(ADGRV1):c.14719G>T (p.Val4907Phe) rs373391623
NM_032119.4(ADGRV1):c.14901T>C (p.Pro4967=) rs1762032375
NM_032119.4(ADGRV1):c.15353G>A (p.Ser5118Asn) rs756275299
NM_032119.4(ADGRV1):c.15401A>G (p.Asp5134Gly) rs1762354671
NM_032119.4(ADGRV1):c.15476C>T (p.Thr5159Ile) rs1472004831
NM_032119.4(ADGRV1):c.15492C>A (p.Ser5164Arg) rs771447233
NM_032119.4(ADGRV1):c.15496A>T (p.Thr5166Ser) rs1762365729
NM_032119.4(ADGRV1):c.15697A>G (p.Met5233Val) rs937520838
NM_032119.4(ADGRV1):c.16337G>C (p.Cys5446Ser) rs1385789921
NM_032119.4(ADGRV1):c.16677T>C (p.Phe5559=) rs1765343575
NM_032119.4(ADGRV1):c.1678A>G (p.Ile560Val) rs1765203369
NM_032119.4(ADGRV1):c.17017A>C (p.Lys5673Gln) rs41303350
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.17024C>T (p.Thr5675Ile) rs1766156572
NM_032119.4(ADGRV1):c.17188G>T (p.Gly5730Cys) rs745645525
NM_032119.4(ADGRV1):c.17402G>A (p.Ser5801Asn) rs749894314
NM_032119.4(ADGRV1):c.17455-6T>C rs773817946
NM_032119.4(ADGRV1):c.17460A>G (p.Leu5820=) rs1766790878
NM_032119.4(ADGRV1):c.18082C>T (p.Leu6028Phe)
NM_032119.4(ADGRV1):c.18433-13T>C rs1313679502
NM_032119.4(ADGRV1):c.18516T>C (p.Asn6172=) rs1458060011
NM_032119.4(ADGRV1):c.18668A>C (p.Gln6223Pro) rs756976267
NM_032119.4(ADGRV1):c.2301G>T (p.Leu767Phe) rs375652742
NM_032119.4(ADGRV1):c.2412C>T (p.Ser804=) rs1393079124
NM_032119.4(ADGRV1):c.2769T>C (p.Phe923=) rs1767484423
NM_032119.4(ADGRV1):c.2833G>T (p.Gly945Trp) rs1327028321
NM_032119.4(ADGRV1):c.3022+9G>C rs1767715969
NM_032119.4(ADGRV1):c.3416+9A>G rs1228297663
NM_032119.4(ADGRV1):c.3731T>C (p.Leu1244Ser) rs1457543918
NM_032119.4(ADGRV1):c.3901G>T (p.Asp1301Tyr) rs2149466957
NM_032119.4(ADGRV1):c.409A>G (p.Ile137Val) rs575602255
NM_032119.4(ADGRV1):c.4108T>G (p.Phe1370Val) rs1561464218
NM_032119.4(ADGRV1):c.4556G>A (p.Gly1519Glu) rs1300795240
NM_032119.4(ADGRV1):c.4929+6C>A rs770299827
NM_032119.4(ADGRV1):c.4930-13T>C rs1772876338
NM_032119.4(ADGRV1):c.4977G>A (p.Glu1659=) rs1332531282
NM_032119.4(ADGRV1):c.514A>T (p.Ile172Phe) rs2152065480
NM_032119.4(ADGRV1):c.5674C>T (p.His1892Tyr) rs1487676914
NM_032119.4(ADGRV1):c.5739C>T (p.Leu1913=) rs1445702123
NM_032119.4(ADGRV1):c.5776C>A (p.Gln1926Lys) rs1449286135
NM_032119.4(ADGRV1):c.5785G>A (p.Ala1929Thr) rs41311335
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser) rs41311335
NM_032119.4(ADGRV1):c.5800G>C (p.Glu1934Gln) rs924076283
NM_032119.4(ADGRV1):c.5830G>T (p.Asp1944Tyr) rs41302834
NM_032119.4(ADGRV1):c.6017G>A (p.Gly2006Asp) rs768201036
NM_032119.4(ADGRV1):c.6017G>T (p.Gly2006Val) rs768201036
NM_032119.4(ADGRV1):c.6083C>T (p.Pro2028Leu) rs764451392
NM_032119.4(ADGRV1):c.6293T>C (p.Leu2098Pro)
NM_032119.4(ADGRV1):c.6491-10G>A rs1746236391
NM_032119.4(ADGRV1):c.6514T>C (p.Ser2172Pro) rs2149615684
NM_032119.4(ADGRV1):c.6526T>A (p.Leu2176Met) rs772875455
NM_032119.4(ADGRV1):c.6599C>G (p.Ser2200Cys) rs771621314
NM_032119.4(ADGRV1):c.6952G>T (p.Val2318Phe) rs1338945655
NM_032119.4(ADGRV1):c.709A>C (p.Lys237Gln) rs1764885190
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=) rs111033452
NM_032119.4(ADGRV1):c.7255C>T (p.Pro2419Ser) rs2149639504
NM_032119.4(ADGRV1):c.7571T>A (p.Val2524Glu) rs191036195
NM_032119.4(ADGRV1):c.7702G>A (p.Val2568Ile) rs770016069
NM_032119.4(ADGRV1):c.7892C>G (p.Ala2631Gly) rs1471310336
NM_032119.4(ADGRV1):c.7893T>C (p.Ala2631=) rs1746947355
NM_032119.4(ADGRV1):c.8091C>T (p.Ala2697=) rs556164327
NM_032119.4(ADGRV1):c.8156-4G>A rs1228094810
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.9143C>G (p.Thr3048Arg) rs1749480488
NM_032119.4(ADGRV1):c.9182T>G (p.Ile3061Arg) rs1749486357
NM_032119.4(ADGRV1):c.9624-4T>A rs1750838817
NM_032119.4(ADGRV1):c.9763G>A (p.Val3255Met) rs776345555

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