ClinVar Miner

List of variants in gene ADGRV1 reported as uncertain significance for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.14943G>C (p.Gln4981His) rs200153555 0.00202
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala) rs113498662 0.00189
NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys) rs183851734 0.00086
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile) rs202110635 0.00083
NM_032119.4(ADGRV1):c.2740T>C (p.Tyr914His) rs189967386 0.00064
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr) rs200115167 0.00060
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln) rs201747452 0.00045
NM_032119.4(ADGRV1):c.4264A>G (p.Ser1422Gly) rs377136573 0.00039
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly) rs202106463 0.00038
NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg) rs190988309 0.00034
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile) rs61745496 0.00031
NM_032119.4(ADGRV1):c.14005T>C (p.Phe4669Leu) rs199792315 0.00027
NM_032119.4(ADGRV1):c.13153A>G (p.Ile4385Val) rs200584854 0.00026
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.6443C>T (p.Ala2148Val) rs375921325 0.00022
NM_032119.4(ADGRV1):c.10697T>C (p.Ile3566Thr) rs201483312 0.00019
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys) rs146526977 0.00019
NM_032119.4(ADGRV1):c.686A>G (p.Asp229Gly) rs200541858 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.14224G>A (p.Glu4742Lys) rs372362723 0.00014
NM_032119.4(ADGRV1):c.14605C>T (p.Leu4869Phe) rs371563402 0.00013
NM_032119.4(ADGRV1):c.18710C>T (p.Thr6237Met) rs376428763 0.00011
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr) rs771410054 0.00011
NM_032119.4(ADGRV1):c.5260A>G (p.Thr1754Ala) rs201186767 0.00011
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.5351G>A (p.Arg1784Lys) rs748852381 0.00010
NM_032119.4(ADGRV1):c.564G>T (p.Glu188Asp) rs377529304 0.00010
NM_032119.4(ADGRV1):c.10547T>C (p.Ile3516Thr) rs756294827 0.00009
NM_032119.4(ADGRV1):c.1217T>C (p.Ile406Thr) rs779851711 0.00009
NM_032119.4(ADGRV1):c.13550T>C (p.Ile4517Thr) rs748263327 0.00008
NM_032119.4(ADGRV1):c.15113T>C (p.Ile5038Thr) rs192561791 0.00008
NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg) rs369717492 0.00008
NM_032119.4(ADGRV1):c.6116A>G (p.Asp2039Gly) rs779923053 0.00008
NM_032119.4(ADGRV1):c.16072A>G (p.Ile5358Val) rs1341636479 0.00006
NM_032119.4(ADGRV1):c.17075A>G (p.Tyr5692Cys) rs746621216 0.00006
NM_032119.4(ADGRV1):c.17920G>T (p.Ala5974Ser) rs397517427 0.00006
NM_032119.4(ADGRV1):c.3203G>A (p.Arg1068Lys) rs202151375 0.00006
NM_032119.4(ADGRV1):c.4871T>C (p.Val1624Ala) rs376895610 0.00006
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp) rs376505416 0.00005
NM_032119.4(ADGRV1):c.5574C>A (p.Asp1858Glu) rs771317730 0.00005
NM_032119.4(ADGRV1):c.12008T>C (p.Ile4003Thr) rs376911431 0.00004
NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser) rs576429729 0.00004
NM_032119.4(ADGRV1):c.2524T>G (p.Leu842Val) rs370265583 0.00004
NM_032119.4(ADGRV1):c.2543G>A (p.Gly848Glu) rs959132080 0.00004
NM_032119.4(ADGRV1):c.2686G>A (p.Gly896Ser) rs758482276 0.00004
NM_032119.4(ADGRV1):c.3127G>A (p.Gly1043Arg) rs765930768 0.00004
NM_032119.4(ADGRV1):c.3431G>A (p.Arg1144Gln) rs199735068 0.00004
NM_032119.4(ADGRV1):c.5587G>A (p.Val1863Ile) rs529184143 0.00004
NM_032119.4(ADGRV1):c.5833A>G (p.Lys1945Glu) rs772605124 0.00004
NM_032119.4(ADGRV1):c.6254C>T (p.Ala2085Val) rs763204750 0.00004
NM_032119.4(ADGRV1):c.9120T>G (p.Asp3040Glu) rs200204560 0.00004
NM_032119.4(ADGRV1):c.10570C>A (p.Gln3524Lys) rs766464017 0.00003
NM_032119.4(ADGRV1):c.11038C>T (p.Arg3680Cys) rs367738566 0.00003
NM_032119.4(ADGRV1):c.11725C>A (p.Pro3909Thr) rs745891354 0.00003
NM_032119.4(ADGRV1):c.15634G>A (p.Ala5212Thr) rs773353250 0.00003
NM_032119.4(ADGRV1):c.17869G>A (p.Ala5957Thr) rs765800403 0.00003
NM_032119.4(ADGRV1):c.2233C>G (p.Leu745Val) rs373724664 0.00003
NM_032119.4(ADGRV1):c.4658G>A (p.Arg1553His) rs369994629 0.00003
NM_032119.4(ADGRV1):c.11206A>C (p.Ile3736Leu) rs374344462 0.00002
NM_032119.4(ADGRV1):c.12869G>A (p.Arg4290His) rs762515714 0.00002
NM_032119.4(ADGRV1):c.13411T>G (p.Ser4471Ala) rs769830439 0.00002
NM_032119.4(ADGRV1):c.13450A>G (p.Ile4484Val) rs990935995 0.00002
NM_032119.4(ADGRV1):c.14069T>G (p.Phe4690Cys) rs760733336 0.00002
NM_032119.4(ADGRV1):c.15701A>G (p.Lys5234Arg) rs138975725 0.00002
NM_032119.4(ADGRV1):c.9291T>G (p.Ser3097Arg) rs727505041 0.00002
NM_032119.4(ADGRV1):c.1015G>C (p.Glu339Gln) rs767567119 0.00001
NM_032119.4(ADGRV1):c.10414A>G (p.Asn3472Asp) rs369190212 0.00001
NM_032119.4(ADGRV1):c.11947G>A (p.Ala3983Thr) rs774167945 0.00001
NM_032119.4(ADGRV1):c.1243G>A (p.Glu415Lys) rs368528967 0.00001
NM_032119.4(ADGRV1):c.13017T>A (p.Asp4339Glu) rs780334804 0.00001
NM_032119.4(ADGRV1):c.1352C>T (p.Pro451Leu) rs1438323109 0.00001
NM_032119.4(ADGRV1):c.15973C>A (p.Gln5325Lys) rs767603980 0.00001
NM_032119.4(ADGRV1):c.1604G>A (p.Arg535Gln) rs758505511 0.00001
NM_032119.4(ADGRV1):c.17998G>C (p.Val6000Leu) rs767259676 0.00001
NM_032119.4(ADGRV1):c.1799A>G (p.Asn600Ser) rs876657823 0.00001
NM_032119.4(ADGRV1):c.180G>C (p.Glu60Asp) rs569274233 0.00001
NM_032119.4(ADGRV1):c.18716C>T (p.Pro6239Leu) rs548351825 0.00001
NM_032119.4(ADGRV1):c.1978A>G (p.Ile660Val) rs776952851 0.00001
NM_032119.4(ADGRV1):c.2173A>G (p.Ile725Val) rs773629275 0.00001
NM_032119.4(ADGRV1):c.220G>A (p.Asp74Asn) rs780750634 0.00001
NM_032119.4(ADGRV1):c.337A>G (p.Ile113Val) rs1435973584 0.00001
NM_032119.4(ADGRV1):c.4444G>A (p.Asp1482Asn) rs1331697643 0.00001
NM_032119.4(ADGRV1):c.6589C>A (p.Leu2197Met) rs371023442 0.00001
NM_032119.4(ADGRV1):c.6705T>G (p.Phe2235Leu) rs777260815 0.00001
NM_032119.4(ADGRV1):c.7382C>T (p.Pro2461Leu) rs560465803 0.00001
NM_032119.4(ADGRV1):c.7588G>C (p.Asp2530His) rs1247003497 0.00001
NM_032119.4(ADGRV1):c.7754T>C (p.Ile2585Thr) rs1229881653 0.00001
NM_032119.4(ADGRV1):c.8087T>C (p.Leu2696Ser) rs751876337 0.00001
NM_032119.4(ADGRV1):c.8390T>G (p.Val2797Gly) rs374346827 0.00001
NM_032119.4(ADGRV1):c.8962C>A (p.Pro2988Thr) rs1442112970 0.00001
NM_032119.4(ADGRV1):c.9189A>C (p.Leu3063Phe) rs201401085 0.00001
NM_032119.4(ADGRV1):c.9313C>T (p.Arg3105Trp) rs767543352 0.00001
NM_032119.4(ADGRV1):c.9940G>A (p.Ala3314Thr) rs773086150 0.00001
NM_032119.4(ADGRV1):c.9948T>A (p.Asn3316Lys) rs534508538 0.00001
NM_032119.4(ADGRV1):c.10150G>A (p.Glu3384Lys) rs371240064
NM_032119.4(ADGRV1):c.10195C>T (p.His3399Tyr)
NM_032119.4(ADGRV1):c.10223T>C (p.Leu3408Pro)
NM_032119.4(ADGRV1):c.10403T>C (p.Ile3468Thr)
NM_032119.4(ADGRV1):c.10493C>T (p.Ser3498Phe) rs772925137
NM_032119.4(ADGRV1):c.10756G>A (p.Asp3586Asn) rs1754480457
NM_032119.4(ADGRV1):c.10810A>G (p.Thr3604Ala)
NM_032119.4(ADGRV1):c.11258G>T (p.Gly3753Val) rs1175011743
NM_032119.4(ADGRV1):c.11426T>A (p.Leu3809His) rs368086521
NM_032119.4(ADGRV1):c.1156A>C (p.Asn386His)
NM_032119.4(ADGRV1):c.11827C>G (p.Arg3943Gly) rs762677981
NM_032119.4(ADGRV1):c.11891T>G (p.Leu3964Arg)
NM_032119.4(ADGRV1):c.11934T>G (p.Asp3978Glu)
NM_032119.4(ADGRV1):c.11944A>G (p.Thr3982Ala)
NM_032119.4(ADGRV1):c.12010T>G (p.Ser4004Ala)
NM_032119.4(ADGRV1):c.12228A>G (p.Ile4076Met)
NM_032119.4(ADGRV1):c.12257C>G (p.Pro4086Arg)
NM_032119.4(ADGRV1):c.12301A>T (p.Thr4101Ser)
NM_032119.4(ADGRV1):c.12515C>T (p.Thr4172Ile)
NM_032119.4(ADGRV1):c.12523A>G (p.Ile4175Val)
NM_032119.4(ADGRV1):c.12935G>A (p.Gly4312Asp) rs771225820
NM_032119.4(ADGRV1):c.13088A>G (p.Tyr4363Cys) rs1040207686
NM_032119.4(ADGRV1):c.1310G>A (p.Arg437Gln)
NM_032119.4(ADGRV1):c.13305T>G (p.Asp4435Glu) rs769915981
NM_032119.4(ADGRV1):c.13334C>G (p.Pro4445Arg)
NM_032119.4(ADGRV1):c.1336A>G (p.Thr446Ala)
NM_032119.4(ADGRV1):c.1339G>T (p.Ala447Ser)
NM_032119.4(ADGRV1):c.13660T>G (p.Trp4554Gly)
NM_032119.4(ADGRV1):c.13691C>G (p.Ala4564Gly)
NM_032119.4(ADGRV1):c.13756G>A (p.Glu4586Lys)
NM_032119.4(ADGRV1):c.13820C>A (p.Thr4607Lys)
NM_032119.4(ADGRV1):c.13829T>C (p.Ile4610Thr)
NM_032119.4(ADGRV1):c.13933G>A (p.Ala4645Thr) rs768504241
NM_032119.4(ADGRV1):c.13946T>G (p.Leu4649Trp)
NM_032119.4(ADGRV1):c.14086T>G (p.Phe4696Val)
NM_032119.4(ADGRV1):c.14308C>T (p.Arg4770Cys)
NM_032119.4(ADGRV1):c.14356A>T (p.Asn4786Tyr)
NM_032119.4(ADGRV1):c.14635G>C (p.Val4879Leu)
NM_032119.4(ADGRV1):c.14764T>C (p.Trp4922Arg)
NM_032119.4(ADGRV1):c.1477C>G (p.Arg493Gly) rs779948710
NM_032119.4(ADGRV1):c.1498G>A (p.Glu500Lys)
NM_032119.4(ADGRV1):c.1505C>A (p.Ala502Glu)
NM_032119.4(ADGRV1):c.15284C>T (p.Thr5095Ile) rs980189988
NM_032119.4(ADGRV1):c.15313T>C (p.Phe5105Leu)
NM_032119.4(ADGRV1):c.15328A>G (p.Ser5110Gly)
NM_032119.4(ADGRV1):c.15361G>A (p.Val5121Met)
NM_032119.4(ADGRV1):c.15401A>G (p.Asp5134Gly) rs1762354671
NM_032119.4(ADGRV1):c.15415G>C (p.Glu5139Gln) rs776241274
NM_032119.4(ADGRV1):c.15508C>A (p.Leu5170Met) rs762651180
NM_032119.4(ADGRV1):c.15751T>A (p.Phe5251Ile)
NM_032119.4(ADGRV1):c.15769A>T (p.Ile5257Leu)
NM_032119.4(ADGRV1):c.15824C>G (p.Pro5275Arg) rs754514658
NM_032119.4(ADGRV1):c.16082G>A (p.Ser5361Asn)
NM_032119.4(ADGRV1):c.16157T>C (p.Met5386Thr)
NM_032119.4(ADGRV1):c.16171C>T (p.Leu5391Phe)
NM_032119.4(ADGRV1):c.16280T>A (p.Val5427Glu)
NM_032119.4(ADGRV1):c.16288C>G (p.Leu5430Val)
NM_032119.4(ADGRV1):c.16360C>T (p.Pro5454Ser)
NM_032119.4(ADGRV1):c.16382A>G (p.Glu5461Gly)
NM_032119.4(ADGRV1):c.16399G>A (p.Glu5467Lys)
NM_032119.4(ADGRV1):c.16537G>T (p.Ala5513Ser) rs372113605
NM_032119.4(ADGRV1):c.16549A>G (p.Ser5517Gly)
NM_032119.4(ADGRV1):c.16568A>T (p.Asp5523Val)
NM_032119.4(ADGRV1):c.16622G>A (p.Ser5541Asn)
NM_032119.4(ADGRV1):c.16780C>T (p.Arg5594Cys)
NM_032119.4(ADGRV1):c.16832T>C (p.Val5611Ala)
NM_032119.4(ADGRV1):c.16930C>T (p.Leu5644Phe)
NM_032119.4(ADGRV1):c.17017A>C (p.Lys5673Gln) rs41303350
NM_032119.4(ADGRV1):c.17128A>G (p.Ser5710Gly)
NM_032119.4(ADGRV1):c.17174C>A (p.Thr5725Asn)
NM_032119.4(ADGRV1):c.17247G>C (p.Leu5749Phe)
NM_032119.4(ADGRV1):c.17305G>A (p.Asp5769Asn)
NM_032119.4(ADGRV1):c.1739G>C (p.Arg580Thr)
NM_032119.4(ADGRV1):c.17519A>G (p.Tyr5840Cys)
NM_032119.4(ADGRV1):c.17773C>G (p.Leu5925Val)
NM_032119.4(ADGRV1):c.17936A>G (p.Tyr5979Cys)
NM_032119.4(ADGRV1):c.18146G>T (p.Gly6049Val)
NM_032119.4(ADGRV1):c.18181T>A (p.Leu6061Met)
NM_032119.4(ADGRV1):c.18455A>G (p.Tyr6152Cys)
NM_032119.4(ADGRV1):c.18485C>G (p.Pro6162Arg)
NM_032119.4(ADGRV1):c.2020T>C (p.Tyr674His)
NM_032119.4(ADGRV1):c.2059A>G (p.Thr687Ala) rs1156763944
NM_032119.4(ADGRV1):c.2213A>G (p.Asn738Ser)
NM_032119.4(ADGRV1):c.2251G>A (p.Glu751Lys)
NM_032119.4(ADGRV1):c.2310T>A (p.Asp770Glu)
NM_032119.4(ADGRV1):c.2380G>A (p.Val794Ile)
NM_032119.4(ADGRV1):c.2432A>C (p.His811Pro) rs2149429451
NM_032119.4(ADGRV1):c.2755A>T (p.Asn919Tyr)
NM_032119.4(ADGRV1):c.2911A>G (p.Met971Val)
NM_032119.4(ADGRV1):c.2956A>G (p.Lys986Glu)
NM_032119.4(ADGRV1):c.2988G>T (p.Arg996Ser)
NM_032119.4(ADGRV1):c.3055A>G (p.Thr1019Ala)
NM_032119.4(ADGRV1):c.3133G>A (p.Ala1045Thr)
NM_032119.4(ADGRV1):c.3160C>G (p.Pro1054Ala)
NM_032119.4(ADGRV1):c.3209A>G (p.Gln1070Arg)
NM_032119.4(ADGRV1):c.3638G>A (p.Gly1213Glu)
NM_032119.4(ADGRV1):c.3649C>T (p.Pro1217Ser)
NM_032119.4(ADGRV1):c.3788T>A (p.Met1263Lys)
NM_032119.4(ADGRV1):c.4193T>C (p.Leu1398Pro)
NM_032119.4(ADGRV1):c.4225T>C (p.Tyr1409His)
NM_032119.4(ADGRV1):c.4820A>G (p.His1607Arg) rs777111873
NM_032119.4(ADGRV1):c.4889C>T (p.Ala1630Val)
NM_032119.4(ADGRV1):c.5042G>A (p.Ser1681Asn)
NM_032119.4(ADGRV1):c.5179G>A (p.Val1727Ile)
NM_032119.4(ADGRV1):c.5183C>G (p.Pro1728Arg)
NM_032119.4(ADGRV1):c.5210G>A (p.Gly1737Glu)
NM_032119.4(ADGRV1):c.5491A>G (p.Met1831Val)
NM_032119.4(ADGRV1):c.5725C>T (p.Pro1909Ser)
NM_032119.4(ADGRV1):c.5792T>A (p.Ile1931Asn)
NM_032119.4(ADGRV1):c.5879G>T (p.Gly1960Val)
NM_032119.4(ADGRV1):c.6088A>G (p.Asn2030Asp)
NM_032119.4(ADGRV1):c.6142C>T (p.Leu2048Phe)
NM_032119.4(ADGRV1):c.6290G>A (p.Arg2097His) rs572910896
NM_032119.4(ADGRV1):c.6473C>T (p.Pro2158Leu) rs771222609
NM_032119.4(ADGRV1):c.6620A>G (p.Asn2207Ser)
NM_032119.4(ADGRV1):c.6808G>T (p.Val2270Phe)
NM_032119.4(ADGRV1):c.7119A>G (p.Ile2373Met)
NM_032119.4(ADGRV1):c.7571T>A (p.Val2524Glu) rs191036195
NM_032119.4(ADGRV1):c.7577T>C (p.Ile2526Thr)
NM_032119.4(ADGRV1):c.7915G>A (p.Gly2639Ser)
NM_032119.4(ADGRV1):c.8083A>G (p.Ile2695Val)
NM_032119.4(ADGRV1):c.8242G>C (p.Glu2748Gln)
NM_032119.4(ADGRV1):c.8485G>C (p.Ala2829Pro)
NM_032119.4(ADGRV1):c.8534A>G (p.Gln2845Arg)
NM_032119.4(ADGRV1):c.8831A>C (p.Glu2944Ala)
NM_032119.4(ADGRV1):c.9076A>C (p.Asn3026His)
NM_032119.4(ADGRV1):c.9125A>G (p.Lys3042Arg)
NM_032119.4(ADGRV1):c.9160C>A (p.Leu3054Ile)
NM_032119.4(ADGRV1):c.9550G>T (p.Val3184Phe)
NM_032119.4(ADGRV1):c.9593G>A (p.Gly3198Glu)
NM_032119.4(ADGRV1):c.9865G>C (p.Val3289Leu) rs1751565608

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