ClinVar Miner

Variants studied for Currarino triad

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
15 7 68 14 1 2 106

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MNX1 13 6 58 11 1 1 89
LOC129999736, MNX1 0 0 6 2 0 1 9
LOC129999735, MNX1 2 0 4 1 0 0 7
ABCC5, ABCF3, ACTL6A, ALG3, AP2M1, ATP11B, ATP11B-DT, B3GNT5, C3orf70, CAMK2N2, CCDC39, CHRD, CLCN2, DCUN1D1, DNAJC19, DVL3, ECE2, EEF1AKMT4, EEF1AKMT4-ECE2, EHHADH, EIF2B5, EIF2B5-DT, EIF4G1, EPHB3, FAM131A, FXR1, GNB4, HTR3C, HTR3D, HTR3E, IGF2BP2, KCNMB2, KCNMB3, KLHL24, KLHL6, LAMP3, LINC01014, LINC01206, LINC01839, LINC01840, LINC01994, LINC01995, LINC02015, LINC02031, LINC02053, LINC02054, LINC02069, LINC03184, LIPH, LOC102724604, LOC105374235, LOC107986160, LOC107986163, LOC108281177, LOC108281178, LOC110120606, LOC110120632, LOC110120734, LOC110121064, LOC112935913, LOC114004376, LOC115995533, LOC115995534, LOC115995535, LOC121048724, LOC121048725, LOC121725164, LOC121725165, LOC121725166, LOC123256951, LOC123256952, LOC123256953, LOC123256954, LOC123256955, LOC123453198, LOC123453199, LOC123453200, LOC123453201, LOC123453202, LOC123453203, LOC123464470, LOC123464471, LOC123464472, LOC126806881, LOC126806882, LOC126806883, LOC126806884, LOC126806885, LOC126806886, LOC126806887, LOC126806888, LOC126806889, LOC126806890, LOC126806891, LOC126806892, LOC126806893, LOC126806894, LOC126806895, LOC126806896, LOC129389179, LOC129389180, LOC129389181, LOC129389182, LOC129389183, LOC129389184, LOC129389185, LOC129389186, LOC129389187, LOC129389188, LOC129937951, LOC129937952, LOC129937953, LOC129937954, LOC129937955, LOC129937956, LOC129937957, LOC129937958, LOC129937959, LOC129937960, LOC129937961, LOC129937962, LOC129937963, LOC129937964, LOC129937965, LOC129937966, LOC129937967, LOC129937968, LOC129937969, LOC129937970, LOC129937971, LOC129937972, LOC129937973, LOC129937974, LOC129937975, LOC129937976, LOC129937977, LOC129937978, LOC129937979, LOC129937980, LOC129937981, LOC129937982, LOC129937983, LOC129937984, LOC129937985, LOC129937986, LOC129937987, LOC129937988, LOC129937989, LOC129937990, LOC129937991, LOC129937992, LOC129937993, LOC129937994, LOC129937995, LOC129937996, LOC129937997, LOC129937998, LOC129937999, LOC129938000, LOC129938001, LOC129938002, LOC129938003, LOC129938004, LOC129938005, LOC129938006, LOC129938007, 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, MAGEF1, MAP3K13, MAP6D1, MCCC1, MCF2L2, MFN1, MIR1224, MIR4448, MIR5588, MRPL47, NDUFB5, PARL, PEX5L, PIK3CA, PIK3CA-DT, POLR2H, PSMD2, SENP2, SNHG33, SNORA63D, SNORA63E, SNORD66, SOX2, SOX2-OT, THPO, TMEM41A, TTC14, TTC14-DT, USP13, VPS8, VWA5B2, YEATS2, ZMAT3, ZNF639 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 1 1 63 14 1 0 80
OMIM 10 0 0 0 0 0 10
Revvity Omics, Revvity 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
3billion 1 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1

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