ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2C

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 188
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HGVS dbSNP
NM_021625.4(TRPV4):c.1006C>T (p.Arg336Cys) rs781229110
NM_021625.4(TRPV4):c.1039G>T (p.Asp347Tyr)
NM_021625.4(TRPV4):c.1062C>T (p.Ala354=) rs115446386
NM_021625.4(TRPV4):c.1074C>T (p.Pro358=) rs140040335
NM_021625.4(TRPV4):c.1076_1093del (p.Asp359_Ala364del)
NM_021625.4(TRPV4):c.1093G>A (p.Val365Met) rs570675468
NM_021625.4(TRPV4):c.1115C>T (p.Ser372Leu) rs1479394096
NM_021625.4(TRPV4):c.1139C>T (p.Thr380Met) rs764949536
NM_021625.4(TRPV4):c.114T>A (p.Asn38Lys) rs878853090
NM_021625.4(TRPV4):c.1152+10C>T rs766655934
NM_021625.4(TRPV4):c.1153-10C>T rs149541389
NM_021625.4(TRPV4):c.1175G>C (p.Arg392Pro) rs770364304
NM_021625.4(TRPV4):c.1199G>A (p.Arg400Gln) rs926925253
NM_021625.4(TRPV4):c.1277C>T (p.Thr426Met)
NM_021625.4(TRPV4):c.1308C>T (p.Ile436=) rs141244183
NM_021625.4(TRPV4):c.1328T>C (p.Ile443Thr) rs1032807952
NM_021625.4(TRPV4):c.1337G>A (p.Arg446His) rs143502097
NM_021625.4(TRPV4):c.1341C>T (p.His447=) rs57316123
NM_021625.4(TRPV4):c.1342G>A (p.Glu448Lys) rs373103155
NM_021625.4(TRPV4):c.1376T>G (p.Leu459Arg) rs201132615
NM_021625.4(TRPV4):c.1378C>T (p.Arg460Trp) rs34227547
NM_021625.4(TRPV4):c.137C>T (p.Ser46Phe) rs202066574
NM_021625.4(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874
NM_021625.4(TRPV4):c.1392C>T (p.Arg464=)
NM_021625.4(TRPV4):c.1398C>T (p.Phe466=) rs146929022
NM_021625.4(TRPV4):c.1439G>T (p.Cys480Phe) rs943346163
NM_021625.4(TRPV4):c.1445T>C (p.Met482Thr) rs1565866454
NM_021625.4(TRPV4):c.1449C>G (p.Val483=) rs1060504550
NM_021625.4(TRPV4):c.1450A>G (p.Ile484Val) rs1555206591
NM_021625.4(TRPV4):c.145C>A (p.Pro49Thr)
NM_021625.4(TRPV4):c.1464C>T (p.Thr488=) rs146841400
NM_021625.4(TRPV4):c.1465G>A (p.Ala489Thr)
NM_021625.4(TRPV4):c.1479G>T (p.Pro493=) rs1337838267
NM_021625.4(TRPV4):c.1491+10C>T rs201815805
NM_021625.4(TRPV4):c.1491+5G>A
NM_021625.4(TRPV4):c.1493C>T (p.Pro498Leu) rs1051494811
NM_021625.4(TRPV4):c.1505A>T (p.Tyr502Phe)
NM_021625.4(TRPV4):c.1514C>T (p.Thr505Met)
NM_021625.4(TRPV4):c.1522T>C (p.Tyr508His) rs1167973138
NM_021625.4(TRPV4):c.1528C>T (p.Arg510Trp) rs918220829
NM_021625.4(TRPV4):c.152C>T (p.Pro51Leu) rs115861965
NM_021625.4(TRPV4):c.1539C>T (p.Gly513=) rs141295418
NM_021625.4(TRPV4):c.153G>A (p.Pro51=) rs577306678
NM_021625.4(TRPV4):c.1543G>T (p.Val515Phe)
NM_021625.4(TRPV4):c.1546A>G (p.Ile516Val) rs115976458
NM_021625.4(TRPV4):c.1566C>G (p.Val522=) rs765724064
NM_021625.4(TRPV4):c.1577T>G (p.Phe526Cys) rs1329377960
NM_021625.4(TRPV4):c.1581C>T (p.Thr527=) rs114653066
NM_021625.4(TRPV4):c.1584+1G>A rs775922797
NM_021625.4(TRPV4):c.1584C>T (p.Asn528=)
NM_021625.4(TRPV4):c.159T>A (p.Asp53Glu) rs765021989
NM_021625.4(TRPV4):c.1611C>T (p.Cys537=) rs1407714132
NM_021625.4(TRPV4):c.1625C>A (p.Ser542Tyr) rs387906902
NM_021625.4(TRPV4):c.1627C>T (p.Leu543Phe) rs779325064
NM_021625.4(TRPV4):c.1656del (p.Tyr553fs) rs541606391
NM_021625.4(TRPV4):c.1658+5G>A rs756714651
NM_021625.4(TRPV4):c.167G>A (p.Arg56His) rs767169716
NM_021625.4(TRPV4):c.1684G>A (p.Val562Ile) rs56177950
NM_021625.4(TRPV4):c.1706C>G (p.Ala569Gly)
NM_021625.4(TRPV4):c.1713C>G (p.Ile571Met) rs185933892
NM_021625.4(TRPV4):c.1729G>A (p.Val577Met)
NM_021625.4(TRPV4):c.1744C>T (p.Leu582=) rs35078611
NM_021625.4(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021625.4(TRPV4):c.1824+4C>T rs147259744
NM_021625.4(TRPV4):c.1825-8G>A rs1565864062
NM_021625.4(TRPV4):c.183C>T (p.Gly61=)
NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn)
NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_021625.4(TRPV4):c.1899C>T (p.Val633=) rs753027239
NM_021625.4(TRPV4):c.1912C>G (p.Pro638Ala) rs760044422
NM_021625.4(TRPV4):c.1957A>C (p.Thr653Pro) rs769927678
NM_021625.4(TRPV4):c.1957A>G (p.Thr653Ala) rs769927678
NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu) rs779715512
NM_021625.4(TRPV4):c.1981C>T (p.Arg661Cys)
NM_021625.4(TRPV4):c.1989C>G (p.Ser663Arg)
NM_021625.4(TRPV4):c.202C>T (p.Arg68Cys)
NM_021625.4(TRPV4):c.2043C>T (p.Gly681=) rs375633647
NM_021625.4(TRPV4):c.205A>C (p.Met69Leu) rs200199102
NM_021625.4(TRPV4):c.2077G>A (p.Val693Met)
NM_021625.4(TRPV4):c.2151C>A (p.Leu717=) rs1555205372
NM_021625.4(TRPV4):c.2162C>G (p.Thr721Arg) rs1423138633
NM_021625.4(TRPV4):c.2211G>C (p.Trp737Cys)
NM_021625.4(TRPV4):c.2244C>T (p.Phe748=) rs1340974810
NM_021625.4(TRPV4):c.2246C>G (p.Pro749Arg) rs1555205050
NM_021625.4(TRPV4):c.2248G>A (p.Val750Ile) rs148171058
NM_021625.4(TRPV4):c.2289C>T (p.Thr763=) rs202036871
NM_021625.4(TRPV4):c.2290G>T (p.Val764Leu)
NM_021625.4(TRPV4):c.2295C>G (p.Gly765=) rs753038628
NM_021625.4(TRPV4):c.229A>G (p.Lys77Glu) rs1565883324
NM_021625.4(TRPV4):c.2304G>A (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919
NM_021625.4(TRPV4):c.2396C>T (p.Pro799Leu) rs121912637
NM_021625.4(TRPV4):c.2425G>A (p.Gly809Ser) rs375851168
NM_021625.4(TRPV4):c.2432C>T (p.Ser811Leu)
NM_021625.4(TRPV4):c.2433G>C (p.Ser811=) rs34071623
NM_021625.4(TRPV4):c.2440G>T (p.Val814Leu) rs202075458
NM_021625.4(TRPV4):c.2447G>A (p.Arg816His)
NM_021625.4(TRPV4):c.2452C>T (p.Arg818Cys) rs776544875
NM_021625.4(TRPV4):c.2456G>A (p.Arg819Lys) rs1565857540
NM_021625.4(TRPV4):c.2459-9T>G rs115373018
NM_021625.4(TRPV4):c.2472G>A (p.Ser824=) rs149988106
NM_021625.4(TRPV4):c.2482C>A (p.Arg828Ser) rs1467984181
NM_021625.4(TRPV4):c.2489T>C (p.Val830Ala) rs1565856891
NM_021625.4(TRPV4):c.2495T>G (p.Leu832Arg) rs1565856842
NM_021625.4(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946
NM_021625.4(TRPV4):c.2499C>A (p.Asn833Lys)
NM_021625.4(TRPV4):c.2508G>A (p.Ser836=) rs201884175
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021625.4(TRPV4):c.2521G>A (p.Val841Met)
NM_021625.4(TRPV4):c.2560G>C (p.Asp854His)
NM_021625.4(TRPV4):c.2570A>G (p.Gln857Arg) rs1262126429
NM_021625.4(TRPV4):c.2584del (p.Arg862fs) rs746597270
NM_021625.4(TRPV4):c.25C>T (p.Arg9Cys) rs758741868
NM_021625.4(TRPV4):c.2605G>A (p.Ala869Thr) rs138396764
NM_021625.4(TRPV4):c.26G>A (p.Arg9His) rs776163103
NM_021625.4(TRPV4):c.281C>T (p.Ser94Leu) rs201927283
NM_021625.4(TRPV4):c.300G>A (p.Lys100=) rs370135765
NM_021625.4(TRPV4):c.331G>A (p.Gly111Ser) rs768721947
NM_021625.4(TRPV4):c.336C>A (p.Thr112=) rs969086736
NM_021625.4(TRPV4):c.33G>T (p.Gly11=) rs56092423
NM_021625.4(TRPV4):c.345C>G (p.His115Gln)
NM_021625.4(TRPV4):c.34C>T (p.Pro12Ser)
NM_021625.4(TRPV4):c.37G>A (p.Gly13Arg) rs763302555
NM_021625.4(TRPV4):c.37G>T (p.Gly13Trp) rs763302555
NM_021625.4(TRPV4):c.387-4C>T rs12305439
NM_021625.4(TRPV4):c.387-6C>T rs775634013
NM_021625.4(TRPV4):c.395C>T (p.Pro132Leu) rs779371027
NM_021625.4(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_021625.4(TRPV4):c.402C>A (p.Ser134Arg) rs201241092
NM_021625.4(TRPV4):c.472G>A (p.Val158Met) rs746905653
NM_021625.4(TRPV4):c.479G>A (p.Arg160Gln) rs139300843
NM_021625.4(TRPV4):c.501C>T (p.Asp167=) rs77680510
NM_021625.4(TRPV4):c.50A>G (p.Glu17Gly)
NM_021625.4(TRPV4):c.523A>G (p.Thr175Ala) rs146304351
NM_021625.4(TRPV4):c.549G>A (p.Glu183=) rs141908793
NM_021625.4(TRPV4):c.556C>T (p.Arg186Ter)
NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser) rs3742030
NM_021625.4(TRPV4):c.569C>T (p.Thr190Met) rs1031096826
NM_021625.4(TRPV4):c.57C>T (p.Pro19=) rs112408790
NM_021625.4(TRPV4):c.593C>G (p.Ala198Gly) rs775317084
NM_021625.4(TRPV4):c.602A>G (p.Asn201Ser) rs1555208698
NM_021625.4(TRPV4):c.616C>T (p.Arg206Cys) rs200497189
NM_021625.4(TRPV4):c.617G>A (p.Arg206His)
NM_021625.4(TRPV4):c.646A>G (p.Ile216Val) rs1318320106
NM_021625.4(TRPV4):c.649G>A (p.Ala217Thr) rs187864727
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021625.4(TRPV4):c.651G>A (p.Ala217=) rs371280831
NM_021625.4(TRPV4):c.655C>T (p.Arg219Cys) rs754023659
NM_021625.4(TRPV4):c.656G>A (p.Arg219His) rs767331924
NM_021625.4(TRPV4):c.661G>A (p.Gly221Ser)
NM_021625.4(TRPV4):c.670_671delinsCA (p.Arg224Gln) rs1555208643
NM_021625.4(TRPV4):c.686C>T (p.Ser229Leu)
NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.4(TRPV4):c.701T>C (p.Ile234Thr) rs1555208627
NM_021625.4(TRPV4):c.709C>T (p.Arg237Ter) rs746368269
NM_021625.4(TRPV4):c.710G>T (p.Arg237Leu) rs1289139464
NM_021625.4(TRPV4):c.711A>G (p.Arg237=) rs927188562
NM_021625.4(TRPV4):c.712+10C>T rs115657305
NM_021625.4(TRPV4):c.712+5G>A rs372251308
NM_021625.4(TRPV4):c.737T>C (p.Ile246Thr)
NM_021625.4(TRPV4):c.746G>A (p.Arg249His)
NM_021625.4(TRPV4):c.760G>A (p.Val254Met) rs143548402
NM_021625.4(TRPV4):c.769C>G (p.Leu257Val) rs56217500
NM_021625.4(TRPV4):c.805C>A (p.Arg269Ser) rs267607146
NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys) rs267607146
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.810G>A (p.Gly270=) rs147558344
NM_021625.4(TRPV4):c.81T>C (p.Gly27=) rs34599967
NM_021625.4(TRPV4):c.820C>T (p.Gln274Ter)
NM_021625.4(TRPV4):c.827A>C (p.Lys276Thr)
NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys) rs267607148
NM_021625.4(TRPV4):c.834G>T (p.Glu278Asp)
NM_021625.4(TRPV4):c.847T>A (p.Tyr283Asn) rs200210023
NM_021625.4(TRPV4):c.854-4G>A rs371733585
NM_021625.4(TRPV4):c.854-5C>T rs116401333
NM_021625.4(TRPV4):c.877G>A (p.Ala293Thr)
NM_021625.4(TRPV4):c.903C>G (p.Val301=) rs748103823
NM_021625.4(TRPV4):c.915G>A (p.Thr305=) rs1565870990
NM_021625.4(TRPV4):c.935C>T (p.Ala312Val)
NM_021625.4(TRPV4):c.940A>G (p.Met314Val) rs151101009
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) rs267607143
NM_021625.4(TRPV4):c.944G>A (p.Arg315Gln) rs1064795696
NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_021625.4(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_021625.4(TRPV4):c.956C>T (p.Ser319Leu) rs377518118
NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) rs142902080

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