ClinVar Miner

Variants studied for flatfoot

Included ClinVar conditions (16):
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
11 3 5 0 0 19

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
FBN1 2 0 1 3
​intergenic 2 0 0 2
CHAT 2 0 0 2
CPT2 0 1 1 2
HARS1 2 0 0 2
AIFM1, RAB33A 0 1 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 1
JAG1 0 0 1 1
KCNA6 0 1 0 1
KIF4A 0 0 1 1
PTPRQ 1 0 0 1
SMARCA5 1 0 0 1
VAV1 0 0 1 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance total
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 2 2 10
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 2 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 1
Molecular Genetics Laboratory, Motol Hospital 0 0 1 1

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