ClinVar Miner

Variants studied for primary aldosteronism

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
33 19 1387 1590 853 1 3591

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CACNA1H 2 0 1118 1496 699 1 3031
KCNJ5 5 0 103 17 37 0 161
CYP11B2, LOC106799834 0 0 38 13 40 0 91
CYP11B1, LOC106799833 8 11 23 25 23 0 87
CYP11B1 1 2 44 7 32 0 86
CACNA1D 3 1 34 7 20 0 62
CLCN2 6 4 17 21 2 0 50
ATP1A1 3 0 0 0 0 0 3
ATP2B3 3 0 0 0 0 0 3
CACNA1D, LOC129936904 0 0 2 1 0 0 3
CYP11B1, LOC110673972 0 0 1 2 0 0 3
ABCA3, ADCY9, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf90, C16orf96, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CORO7, CORO7-PAM16, CRAMP1, CREBBP, DECR2, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, ELOB, EME2, FAHD1, FAM234A, FBXL16, FLYWCH1, FLYWCH2, GFER, GLIS2, GNG13, GNPTG, HAGH, HAGHL, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LMF1, LUC7L, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL26, MGRN1, MIR1225, MLST8, MMP25, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPW, NTHL1, NTN3, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PGAP6, PGP, PIGQ, PKD1, PKMYT1, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDL1, RHOT2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, SEPTIN12, SLX4, SMIM22, SNHG9, SOX8, SPSB3, SRL, SRRM2, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TFAP4, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TSC2, TSR3, UBALD1, UBE2I, UNKL, UQCC4, VASN, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 0 0 1 0 0 0 1
ABCA3, AMDHD2, ANTKMT, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf90, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CEMP1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CRAMP1, DECR2, DNASE1, DNASE1L2, E4F1, ECI1, ELOB, EME2, FAHD1, FBXL16, FLYWCH1, FLYWCH2, GFER, GNG13, GNPTG, HAGH, HAGHL, HCFC1R1, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LMF1, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL26, MIR1225, MLST8, MMP25, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NOXO1, NPW, NTHL1, NTN3, NUBP2, OR1F1, OR2C1, PAQR4, PDPK1, PGAP6, PGP, PIGQ, PKD1, PKMYT1, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SLX4, SNHG9, SOX8, SPSB3, SRRM2, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 0 0 1 0 0 0 1
ABCA3, ANTKMT, BAIAP3, BRICD5, C1QTNF8, CACNA1H, CASKIN1, CCDC154, CCDC78, CCNF, CHTF18, CIAO3, CLCN7, CRAMP1, DNASE1L2, E4F1, ECI1, EME2, FAHD1, FBXL16, GFER, GNG13, GNPTG, HAGH, HAGHL, HS3ST6, IFT140, IGFALS, JMJD8, JPT2, LMF1, MAPK8IP3, MCRIP2, MEIOB, METRN, METTL26, MIR1225, MLST8, MRPS34, MSLN, MSRB1, NDUFB10, NHERF2, NME3, NOXO1, NPW, NTHL1, NTN3, NUBP2, PGP, PIGQ, PKD1, PRR25, PTX4, RAB26, RAB40C, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SNHG9, SOX8, SPSB3, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ZNF598 0 0 1 0 0 0 1
ANTKMT, ARHGDIG, AXIN1, BAIAP3, C1QTNF8, CACNA1H, CAPN15, CCDC154, CCDC78, CHTF18, CIAO3, CLCN7, CRAMP1, DECR2, EME2, FAM234A, FBXL16, GNG13, GNPTG, HAGHL, IFT140, IGFALS, JMJD8, JPT2, LMF1, LUC7L, MAPK8IP3, MCRIP2, METRN, METTL26, MRPL28, MRPS34, MSLN, NHLRC4, NME3, NME4, NUBP2, PDIA2, PGAP6, PIGQ, PRR25, PRR35, PTX4, RAB11FIP3, RAB40C, RGS11, RHBDL1, RHOT2, RPUSD1, SOX8, SPSB3, SSTR5, STUB1, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1 0 0 1 0 0 0 1
ANTKMT, AXIN1, C1QTNF8, CACNA1H, CAPN15, CCDC78, CHTF18, CIAO3, DECR2, FBXL16, GNG13, HAGHL, JMJD8, LMF1, MCRIP2, METRN, METTL26, MRPL28, MSLN, NHLRC4, NME4, PGAP6, PIGQ, PRR25, PRR35, RAB11FIP3, RAB40C, RHBDL1, RHOT2, RPUSD1, SOX8, SSTR5, STUB1, WDR24, WDR90, WFIKKN1 0 0 1 0 0 0 1
ANTKMT, BAIAP3, C1QTNF8, CACNA1H, CCDC154, CCDC78, CHTF18, CIAO3, CLCN7, CRAMP1, EME2, FAHD1, FBXL16, GFER, GNG13, GNPTG, HAGH, HAGHL, HS3ST6, IFT140, IGFALS, JMJD8, JPT2, LMF1, MAPK8IP3, MCRIP2, MEIOB, METRN, METTL26, MIR1225, MRPS34, MSLN, MSRB1, NDUFB10, NHERF2, NME3, NOXO1, NPW, NTHL1, NUBP2, PIGQ, PKD1, PRR25, PTX4, RAB40C, RHBDL1, RHOT2, RNF151, RPL3L, RPS2, RPUSD1, SNHG9, SOX8, SPSB3, SSTR5, STUB1, SYNGR3, TBL3, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ZNF598 0 0 1 0 0 0 1
ANTKMT, C1QTNF8, CACNA1H, CCDC78, CHTF18, CIAO3, GNG13, HAGHL, LMF1, METRN, MSLN, PRR25, RPUSD1, SOX8, SSTR5 0 0 1 0 0 0 1
CYP11B1, CYP11B2, LOC106799833, LOC106799834, LOC110673972 1 0 0 0 0 0 1
CYP11B2, LOC106799834, LOC110673971 0 0 0 1 0 0 1
HBD, LOC106099063 0 1 0 0 0 0 1
SATB1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 907 1417 698 0 3023
Fulgent Genetics, Fulgent Genetics 7 13 391 311 22 0 744
Illumina Laboratory Services, Illumina 0 0 172 27 131 0 330
Revvity Omics, Revvity 0 0 18 0 0 0 18
Genome-Nilou Lab 0 0 0 0 16 0 16
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 4 12 0 16
OMIM 15 0 0 0 0 0 15
Baylor Genetics 1 0 8 0 0 0 9
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 7 0 0 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 4 0 1 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 4 0 0 0 5
Ute Scholl Laboratory, Heinrich Heine University Duesseldorf 5 0 0 0 0 0 5
New York Genome Center 0 0 5 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 0 4
Centogene AG - the Rare Disease Company 0 0 3 0 0 0 3
MVZ Medizinische Genetik Mainz 0 0 3 0 0 0 3
Mendelics 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
3billion 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1

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