ClinVar Miner

Variants studied for cleft lip

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
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 total
17 4 20 18 0 1 60

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign association total
TP63 9 2 15 17 0 43
MSX1 3 0 1 0 0 4
​intergenic 1 0 1 0 0 2
LOC129992137, MSX1 1 0 0 1 0 2
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 1
ARID1B, CLDN20, NOX3, SNX9, TFB1M, TIAM2, TMEM242, ZDHHC14 1 0 0 0 0 1
CECR2 0 0 1 0 0 1
CPLANE1 0 0 1 0 0 1
DNAH11 0 0 1 0 0 1
GJA1 0 1 0 0 0 1
LEMD3, LOC124629392, LOC130008224, LOC130008225, LOC130008226 0 0 0 0 1 1
SETD5 1 0 0 0 0 1
TMCO1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign association total
Fulgent Genetics, Fulgent Genetics 0 0 15 18 0 33
OMIM 10 0 0 0 0 10
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 1 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 1 0 0 2
Medical Genetics Laboratory, CHRU Nancy 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 1 0 0 0 0 1
3billion 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Craniofacial science Laboratory, School of Dental Sciences, universiti sains malaysia 0 0 0 0 1 1

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