ClinVar Miner

Variants studied for pregnancy disorder

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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 association risk factor not provided total
71 63 276 39 54 1 1 194 654

Gene and significance breakdown #

Total genes and gene combinations: 135
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
CYP19A1, MIR4713HG, PIRC66 13 14 75 14 26 0 0 0 133
NLRP7 8 1 60 8 8 0 0 41 112
NCR1, NLRP7 8 5 28 6 7 0 0 69 109
NR3C2 4 0 80 7 2 0 0 0 92
​intergenic 2 1 0 0 0 0 0 27 30
TSHR 6 17 3 0 5 0 0 0 30
MEI1 3 2 3 1 0 0 0 0 8
CYP19A1 0 0 5 0 1 0 0 0 6
KHDC3L 4 1 1 0 1 0 0 0 6
GCK 2 3 0 0 0 0 0 0 5
GLDN 1 2 0 1 0 0 0 0 4
CORIN 2 0 0 1 0 0 0 0 3
CYP19A1, LOC110386951, MIR4713HG, PIRC66 0 0 2 0 1 0 0 0 3
PIEZO1 0 0 3 0 0 0 0 0 3
SLC26A3 3 0 0 0 0 0 0 0 3
TOP6BL 2 1 1 0 0 0 0 0 3
CC2D2A 2 0 0 0 0 0 0 0 2
CEP128, TSHR 0 0 1 0 1 0 0 0 2
DYNC2H1 2 0 0 0 0 0 0 0 2
GALC 0 2 0 0 0 0 0 0 2
HYLS1, PUS3 0 2 0 0 0 0 0 0 2
NOS3 0 0 0 1 1 0 0 0 2
PKHD1 1 0 1 0 0 0 0 0 2
STOX1 1 0 0 0 1 0 1 0 2
TMEM67 0 2 0 0 0 0 0 0 2
XDH 0 0 2 0 0 0 0 0 2
AATF, ACACA, C17orf78, CCL3L1, CCL3L3, CCL4L1, CCL4L2, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3B, TBC1D3C, TBC1D3H, ZNHIT3 1 0 0 0 0 0 0 0 1
ABCC5, ABCF3, ALG3, AP2M1, B3GNT5, C3orf70, CAMK2N2, CHRD, CLCN2, DVL3, ECE2, EEF1AKMT4, EEF1AKMT4-ECE2, EHHADH, EIF2B5, EIF2B5-DT, EIF4G1, EPHB3, FAM131A, HTR3C, HTR3D, HTR3E, IGF2BP2, KLHL24, KLHL6, LAMP3, LINC01839, LINC01840, LINC02054, LINC02069, LIPH, LOC107986163, LOC112935913, LOC121048724, LOC121048725, LOC121725166, LOC123453200, LOC123453201, LOC123453202, LOC123453203, LOC123464470, LOC123464471, LOC123464472, LOC123464473, LOC123464474, LOC126806886, LOC126806887, LOC126806888, LOC126806889, LOC126806890, LOC126806891, LOC126806892, LOC126806893, LOC126806894, LOC126806895, LOC126806896, LOC129389185, LOC129389186, LOC129389187, LOC129389188, LOC129938008, LOC129938009, LOC129938010, LOC129938011, LOC129938012, LOC129938013, LOC129938014, LOC129938015, LOC129938016, LOC129938017, LOC129938018, LOC129938019, LOC129938020, LOC129938021, LOC129938022, LOC129938023, LOC129938024, LOC129938025, LOC129938026, LOC129938027, LOC129938028, LOC129938029, LOC129938030, LOC129938031, LOC129938032, LOC129938033, LOC129938034, LOC129938035, LOC129938036, LOC129938037, LOC129938038, LOC129938039, LOC129938040, LOC129938041, LOC129938042, LOC129938043, LOC129938044, LOC129938045, LOC129938046, LOC129938047, LOC129938048, LOC129938049, LOC129938050, LOC129938051, LOC129938052, LOC129938053, LOC129938054, LOC129938055, LOC129938056, LOC129938057, LOC129938058, LOC129938059, LOC129938060, LOC129938061, LOC129938062, LOC129938063, LOC129938064, LOC129938065, LOC129938066, LOC129938067, LOC129938068, LOC129938069, LOC129938070, LOC129938071, LOC129938072, LOC129938073, LOC129938074, LOC129938075, LOC129938076, LOC129938077, LOC129938078, LOC129938079, LOC129938080, LOC129938081, LOC129938082, MAGEF1, MAP3K13, MAP6D1, MCCC1, MCF2L2, MIR1224, MIR4448, MIR5588, PARL, POLR2H, PSMD2, SENP2, SNHG33, SNORA63D, SNORA63E, SNORD66, THPO, TMEM41A, VPS8, VWA5B2, YEATS2 1 0 0 0 0 0 0 0 1
ABCC8 0 1 0 0 0 0 0 0 1
ABR, BHLHA9, LOC130059873, LOC130059874, LOC130059875, LOC130059876, TRARG1 0 0 0 0 0 0 0 1 1
ACSL3, LOC129935685 0 0 0 0 0 0 0 1 1
ADCY3, CENPO, DNAJC27, DNMT3A, DTNB, EFR3B, NCOA1, POMC, PTRHD1 0 0 1 0 0 0 0 0 1
ADD1, ADRA2C, ATP5ME, C4orf48, CPLX1, CRIPAK, CTBP1, DGKQ, DOK7, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, GRK4, HAUS3, HGFAC, HTT, IDUA, LETM1, LRPAP1, MAEA, MFSD10, MSANTD1, MXD4, MYL5, NAT8L, NELFA, NKX1-1, NOP14, NSD2, PCGF3, PDE6B, PIGG, POLN, RGS12, RNF212, RNF4, SH3BP2, SLBP, SLC26A1, SLC49A3, SPON2, TACC3, TMEM129, TMEM175, TNIP2, UVSSA, ZFYVE28, ZNF721 1 0 0 0 0 0 0 0 1
ADGRG7, LOC129937149, LOC129937150, TFG 0 0 0 0 0 0 0 1 1
ADRA2B, ANKRD23, ANKRD36, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM4, DUSP2, FAHD2B, FAM178B, FER1L5, ITPRIPL1, KANSL3, LMAN2L, NCAPH, SEMA4C, SNRNP200, STARD7, TMEM127 1 0 0 0 0 0 0 0 1
AGAP10, ANXA8L1, NPY4R 0 0 0 0 0 0 0 1 1
AGPAT2, C9orf163, DIPK1B, EGFL7, MIR126, NOTCH1, SEC16A 0 0 1 0 0 0 0 0 1
AKAP12 0 0 0 0 0 0 0 1 1
ANKFN1 0 0 0 0 0 0 0 1 1
ARHGAP11B, ARHGAP11B-DT, CHRFAM7A, GOLGA8H, GOLGA8J, GOLGA8Q, GOLGA8R, GOLGA8T, LINC02249, LOC106736464, LOC106736465, LOC106736468, LOC106736476, LOC106736480, LOC106783506 0 0 0 0 0 0 0 1 1
ARHGAP24, LOC126807102, LOC126807103, LOC129992790 0 0 0 0 0 0 0 1 1
ARID5B 0 0 1 0 0 0 0 0 1
ARL17A, ARL17B, KANSL1, LOC112533643, LOC126862577, LOC129390878, LRRC37A, LRRC37A2 0 0 0 0 0 0 0 1 1
ARPP21, LOC129936457 0 0 0 0 0 0 0 1 1
ASCL3 0 0 0 0 0 0 0 1 1
ATP8B3, LOC130062987 0 0 0 0 0 0 0 1 1
BAZ2B, LOC120977012, LOC132088769 0 0 0 0 0 0 0 1 1
BPIFA3, LOC126863015 0 0 0 0 0 0 0 1 1
C12orf43, HNF1A 0 0 0 0 0 1 0 0 1
CACNA1C 0 0 0 0 0 0 0 1 1
CATSPER2, LOC130056948, LOC130056949, STRC 0 0 0 0 0 0 0 1 1
CD160, PDZK1, RNF115 0 0 0 0 0 0 0 1 1
CHL1, CNTN4, CNTN6, CRBN, IL5RA, LRRN1, SETMAR, TRNT1 0 1 0 0 0 0 0 0 1
CORIN, LOC101927179 0 0 1 0 0 0 0 0 1
CTDSPL 0 0 0 0 0 0 0 1 1
CYP19A1, LOC110386947 0 0 1 0 0 0 0 0 1
CYP2E1, LOC110599585, LOC126861107, LOC129390242, LOC130005033, LOC130005034, LOC130005035, LOC130005036, SCART1, SYCE1 0 0 0 0 0 0 0 1 1
DDX23 0 1 0 0 0 0 0 0 1
DNAJB13, LOC130006402, LOC130006403, LOC130006404, LOC130006405, LOC130006406, LOC130006407, LOC130006408, PAAF1, UCP2 0 0 0 0 0 0 0 1 1
DNM3, DNM3OS, MIR199A2, MIR214, MIR3120 0 1 0 0 0 0 0 0 1
DOK6 0 0 0 0 0 0 0 1 1
DPY19L2, LOC108720144, LOC130008194 0 0 0 0 0 0 0 1 1
EHD4, LOC105370792, LOC130056904, SPTBN5 0 0 0 0 0 0 0 1 1
FRG2C, LINC00960, LINC02018, LOC112935961, LOC129937069, LOC129937070, LOC129937071, LOC129937072, LOC129937073, MIR1324 0 0 0 0 0 0 0 1 1
GRIN2A 0 0 0 0 0 0 0 1 1
GRIN2B 0 1 0 0 0 0 0 0 1
HCG26, HCP5, LINC01149, LOC121132677, MICA, MICB-DT 0 0 0 0 0 0 0 1 1
HDAC8 1 0 0 0 0 0 0 0 1
IMMP2L 0 0 0 0 0 0 0 1 1
INF2 0 0 1 0 0 0 0 0 1
ITSN1 0 0 0 0 0 0 0 1 1
KCNQ1 0 1 0 0 0 0 0 0 1
KIF26B 0 0 0 0 0 0 0 1 1
KIR3DL1, NLRP7 0 0 1 0 0 0 0 1 1
LINC00659, NTSR1 0 0 0 0 0 0 0 1 1
LINC01237, LINC01238, LINC01880, LINC01881, LINC03100, LOC122889016, LOC132205954, LOC285097 0 0 0 0 0 0 0 1 1
LINC01322 0 0 0 0 0 0 0 1 1
LINC01957, LOC101927078 0 0 0 0 0 0 0 1 1
LINC02018, LOC112935961, LOC129937069, LOC129937070, LOC129937071, LOC129937072 0 0 0 0 0 0 0 1 1
LINC02089, LINC02876 0 0 0 0 0 0 0 1 1
LINC02112, TAS2R1 0 0 0 0 0 0 0 1 1
LMNTD1 0 0 0 0 0 0 0 1 1
LOC100505915, LOC112340378, LOC129390770, MIR3180-4, MIR6511B2, MPV17L, MPV17L-BMERB1, NPIPA5, PDXDC1, RRN3 0 0 0 0 0 0 0 1 1
LOC102724465 0 0 0 0 0 0 0 1 1
LOC105371933, LOC126862540, LOC130060718, LOC130060719, LOC130060720, LOC130060721, LOC130060722, LOC130060723, LOC130060724, LOC130060725, SLFN11, SLFN12, SLFN13 0 0 0 0 0 0 0 1 1
LOC108281140, LOC132088707, MEGF6 0 0 0 0 0 0 0 1 1
LOC108942766, LOC116268429, LOC124625898, LOC126861438, LOC129390395, LOC130007316, LOC130007317, NANOG, SLC2A14, SLC2A3 0 0 0 0 0 0 0 1 1
LOC110673974 0 0 0 0 0 0 0 1 1
LOC111828495, SAFB2, TINCR 0 0 0 0 0 0 0 1 1
LOC112340392, SULT1A1, SULT1A2 0 0 0 0 0 0 0 1 1
LOC121132708, LOC129997289, NHSL1 0 0 0 0 0 0 0 1 1
LOC122056846, LOC126805716 0 0 0 0 0 0 0 1 1
LOC123575679 0 0 0 0 0 0 0 1 1
LOC124310574 0 0 0 0 0 0 0 1 1
LOC126860321, LOC129999959 0 0 0 0 0 0 0 1 1
LOC129389846 0 0 0 0 0 0 0 1 1
LOC129390335, LOC129390336, LOC129390337, LOC129390338, LOC129390339 0 0 0 0 0 0 0 1 1
LOC129390426, LOC132090103 0 0 0 0 0 0 0 1 1
LOC130006532, LOC130006533, LOC130006534, PCF11 0 0 0 0 0 0 0 1 1
LOC130056269, LOC130056270, NRDE2 0 0 0 0 0 0 0 1 1
LOC132090103 0 0 0 0 0 0 0 1 1
LRP1B 0 0 0 0 0 0 0 1 1
LSM1 0 0 1 0 0 0 0 0 1
MFSD2A 1 0 0 0 0 0 0 0 1
MGAM 0 0 0 0 0 0 0 1 1
MTUS1 0 0 0 0 0 0 0 1 1
MYO1D 0 0 0 0 0 0 0 1 1
NGLY1 0 0 1 0 0 0 0 0 1
NIPA1 0 0 0 0 0 0 0 1 1
NIPBL 0 1 0 0 0 0 0 0 1
NLGN1 0 0 0 0 0 0 0 1 1
NRG3 0 0 0 0 0 0 0 1 1
NRXN1-DT 0 0 0 0 0 0 0 1 1
NSD1 0 1 0 0 0 0 0 0 1
OPHN1 0 1 0 0 0 0 0 0 1
OR4C12 0 0 0 0 0 0 0 1 1
OR4D10, OR4D6, OR5A1 0 0 0 0 0 0 0 1 1
PNPO 1 0 0 0 0 0 0 0 1
PSG1, PSG11, PSG6, PSG7 0 0 0 0 0 0 0 1 1
PSG1, PSG6, PSG7 0 0 0 0 0 0 0 1 1
PSG11, PSG4, PSG5 0 0 0 0 0 0 0 1 1
PWRN3 0 0 0 0 0 0 0 1 1
RBFOX3 0 0 0 0 0 0 0 1 1
REV1 0 0 0 0 0 0 0 1 1
RPL17, RPL17-C18orf32 0 1 0 0 0 0 0 0 1
SCARB1 0 0 0 0 0 0 0 1 1
SCYGR1, TM4SF20 0 0 0 0 0 0 0 1 1
SFMBT1 0 0 0 0 0 0 0 1 1
SOX11 0 0 0 0 0 0 0 1 1
STRADA 0 0 1 0 0 0 0 0 1
TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D 0 0 0 0 0 0 0 1 1
VWDE 0 0 0 0 0 0 0 1 1
WAPL 0 0 1 0 0 0 0 0 1
ZDHHC11 0 0 0 0 0 0 0 1 1
ZNF716 0 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Illumina Laboratory Services, Illumina 2 0 142 18 35 0 0 0 197
Fulgent Genetics, Fulgent Genetics 7 28 82 9 3 0 0 0 129
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 0 0 111 111
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 0 0 83 83
Natera, Inc. 2 2 22 8 10 0 0 0 44
OMIM 36 0 0 0 0 0 1 0 37
Centre for Mendelian Genomics, University Medical Centre Ljubljana 7 11 2 0 0 0 0 0 20
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 1 0 2 3 6 0 0 0 12
Baylor Genetics 2 3 4 0 0 0 0 0 9
Center for Reproductive Medicine, Peking University Third Hospital 4 3 2 0 0 0 0 0 9
Genome-Nilou Lab 0 0 0 0 6 0 0 0 6
Genetic Services Laboratory, University of Chicago 2 3 0 0 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 4 0 0 0 5
Medical Genetics Laboratory, CHRU Nancy 3 2 0 0 0 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 2 0 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 2 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 0 0 0 3
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 2 1 0 0 0 0 0 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 2 0 0 0 0 0 3
3billion, Medical Genetics 1 1 0 1 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 1 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 0 0 2
Revvity Omics, Revvity 1 0 1 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 0 0 2
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 0 0 2
Medical Genetics Laboratory, Tarbiat Modares University 0 2 0 0 0 0 0 0 2
Yatsenko Laboratory, Magee-Womens Research Institute, University of Pittsburgh 0 1 0 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 0 0 1
Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), Unidad de Investigacion Traslacional (UIT), Hospital de Niños Dr. Ricardo Gutiérrez 1 0 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Laboratory of Molecular Genetics, CHU RENNES 0 0 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 0 1
Wendy Chung Laboratory, Columbia University Medical Center 0 0 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 0 0 1
Human Genetics Department, Tarbiat Modares University 1 0 0 0 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 0 1 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 0 0 0 1

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