List of variants studied for synpolydactyly type 1 by OMIM

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

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000523.4(HOXD13):c.32G>C (p.Gly11Ala)	rs536639583	0.00154
NM_000523.4(HOXD13):c.916C>T (p.Arg306Trp)	rs28933082	0.00001
NM_000523.4(HOXD13):c.212_213insGGCGGCTGCGGCGGCGGCAGCGGCAGC (p.Ala63_Ala71dup)	rs775525473
NM_000523.4(HOXD13):c.323_336del (p.Pro108fs)	rs878854343
NM_000523.4(HOXD13):c.683G>C (p.Gly228Ala)	rs121912541
NM_000523.4(HOXD13):c.683G>T (p.Gly228Val)	rs121912541
NM_000523.4(HOXD13):c.742C>T (p.Gln248Ter)	rs878854400
NM_000523.4(HOXD13):c.781+1G>A	rs886037831
NM_000523.4(HOXD13):c.782-2del	rs764838478
NM_000523.4(HOXD13):c.834del (p.Lys279fs)	rs878854344
NM_000523.4(HOXD13):c.916C>G (p.Arg306Gly)	rs28933082
NM_000523.4(HOXD13):c.917G>A (p.Arg306Gln)	rs879255265

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.