ClinVar Miner

List of variants studied for inherited renal tubular disease by Mendelics

Included ClinVar conditions (192):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 81
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_052844.4(DYNC2I2):c.178T>G (p.Trp60Gly) rs4837292 0.99672
NM_018051.5(DYNC2I1):c.675C>G (p.Asn225Lys) rs2709859 0.99194
NM_001126108.2(SLC12A3):c.791C>G (p.Ala264Gly) rs1529927 0.97710
NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly) rs1889789 0.81589
NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln) rs589623 0.75293
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) rs688906 0.66697
NM_004070.4(CLCNKA):c.247A>G (p.Arg83Gly) rs10927887 0.59220
NM_014270.5(SLC7A9):c.667C>A (p.Leu223Met) rs1007160 0.31956
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly) rs1191778 0.31383
NM_001377.3(DYNC2H1):c.11039C>T (p.Ala3680Val) rs10895391 0.29753
NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr) rs17849995 0.25469
NM_001098484.3(SLC4A4):c.1904-74_1904-73insGGTT rs773069537 0.12949
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr) rs2293669 0.05563
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val) rs2235638 0.05119
NM_001126108.2(SLC12A3):c.2755C>T (p.Arg919Cys) rs12708965 0.03475
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736 0.01206
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) rs144624477 0.00576
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738 0.00548
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro) rs147452898 0.00394
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_004070.4(CLCNKA):c.935C>T (p.Thr312Ile) rs138110172 0.00332
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635 0.00265
NM_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357 0.00200
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083 0.00157
NM_014425.5(INVS):c.913G>A (p.Val305Ile) rs116438342 0.00140
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) rs191913664 0.00096
NM_000085.5(CLCNKB):c.656-31del rs751608665 0.00046
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289 0.00016
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) rs138081429 0.00014
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met) rs145337602 0.00009
NM_025132.4(WDR19):c.1250-1G>A rs1327583103 0.00009
NM_000085.5(CLCNKB):c.1783C>T (p.Arg595Ter) rs370221310 0.00006
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr) rs121909132 0.00006
NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter) rs201781905 0.00006
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg) rs755714542 0.00004
NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter) rs377215024 0.00004
NM_000338.3(SLC12A1):c.905G>A (p.Arg302Gln) rs747229048 0.00004
NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln) rs781326398 0.00004
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_000054.7(AVPR2):c.784G>A (p.Val262Met) rs1557100878 0.00001
NM_000338.3(SLC12A1):c.1103A>G (p.Glu368Gly) rs1567314296 0.00001
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351 0.00001
NM_001039.4(SCNN1G):c.576T>A (p.Asn192Lys) rs1001641230 0.00001
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr) rs1335391766 0.00001
NM_000054.7(AVPR2):c.191GGCGGGGCC[1] (p.64RRG[1]) rs782292545
NM_000054.7(AVPR2):c.382_384del (p.Tyr128del) rs1557100594
NM_000054.7(AVPR2):c.744_755del (p.Arg249_Arg252del) rs782681085
NM_000054.7(AVPR2):c.816G>A (p.Met272Ile) rs1603282342
NM_000085.5(CLCNKB):c.1400C>T (p.Ala467Val) rs1570340095
NM_000085.5(CLCNKB):c.1560T>G (p.Tyr520Ter) rs1570341086
NM_000085.5(CLCNKB):c.18dup (p.Leu7fs) rs953686324
NM_000085.5(CLCNKB):c.673G>T (p.Glu225Ter) rs1570334344
NM_000276.4(OCRL):c.1458G>A (p.Trp486Ter) rs2124410812
NM_000276.4(OCRL):c.1713+2T>C rs2124417909
NM_000276.4(OCRL):c.217_218del (p.Leu73fs) rs2124392540
NM_000276.4(OCRL):c.40-80dup rs369736288
NM_000338.3(SLC12A1):c.1833del (p.Phe611fs) rs1057520304
NM_000516.7(GNAS):c.596G>C (p.Arg199Pro) rs1267396058
NM_000516.7(GNAS):c.602dup (p.Val202fs) rs2146270735
NM_001023570.4(IQCB1):c.1410+74AT[4] rs1553709033
NM_001023570.4(IQCB1):c.1410+81GT[17] rs57816005
NM_001038.6(SCNN1A):c.1221_1227dup (p.Lys410fs) rs1565478701
NM_001038.6(SCNN1A):c.1439+1G>A rs1369791519
NM_001098484.3(SLC4A4):c.1904-74_1904-73del rs747897537
NM_001126108.2(SLC12A3):c.1706C>A (p.Ala569Glu) rs79351185
NM_001126108.2(SLC12A3):c.20_21del (p.Thr7fs) rs750710315
NM_001127898.4(CLCN5):c.1386_1387del (p.Cys462fs) rs2147596542
NM_001375405.1(CEP120):c.1558C>T (p.Gln520Ter) rs2127059805
NM_001377.3(DYNC2H1):c.12457-1G>C rs2135805319
NM_001377.3(DYNC2H1):c.5559-1G>C rs2134979684
NM_001377.3(DYNC2H1):c.8885AAG[1] (p.Glu2963del) rs770387587
NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys) rs1553535841
NM_006580.4(CLDN16):c.382G>C (p.Gly128Arg) rs1577430815
NM_014714.4(IFT140):c.3192del (p.Glu1065fs) rs1567327347
NM_017649.5(CNNM2):c.2240A>G (p.Asn747Ser) rs988049940
NM_025132.4(WDR19):c.108T>G (p.Tyr36Ter) rs1577822861
NM_025132.4(WDR19):c.2786G>C (p.Arg929Pro) rs201685269
NM_052989.3(IFT122):c.1493T>C (p.Leu498Pro) rs2108328020

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.