List of variants studied for polydactyly-syndactyly-triphalangism by Institute of Human Genetics, University of Leipzig Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)	rs386834153	0.00013
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)	rs202036490	0.00006
NM_153704.6(TMEM67):c.651+2T>G	rs199821258	0.00003
NM_000523.4(HOXD13):c.916C>T (p.Arg306Trp)	rs28933082	0.00001
NM_002334.4(LRP4):c.1894C>T (p.Arg632Cys)	rs1941393359
NM_002334.4(LRP4):c.3472C>T (p.Arg1158Trp)	rs886048351
NM_152515.5(CKAP2L):c.1822+1G>A	rs1680053234
NM_153704.6(TMEM67):c.2557-3T>G	rs1808586167
NM_198525.3(KIF7):c.2201C>T (p.Ala734Val)	rs1963940594

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.