ClinVar Miner

Variants studied for aorta coarctation

Included ClinVar conditions (6):
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 total
2 12 4 0 0 18

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
NF1 0 5 0 5
JAG1 0 4 0 4
​intergenic 1 1 0 2
OBSL1 0 0 2 2
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CCDC183, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FBXW5, FUT7, GRIN1, INPP5E, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, ZMYND19 1 0 0 1
GATA6 0 1 0 1
LRRC38, PDPN 0 0 1 1
RNF213 0 1 0 1
RYR1 0 0 1 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance total
Yale Center for Mendelian Genomics, Yale University 0 11 0 11
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 3 3
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 1 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 1

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