ClinVar Miner

List of variants reported as likely pathogenic for Short-rib thoracic dysplasia 3 with or without polydactyly

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His) rs759549373
NM_001377.3(DYNC2H1):c.10100G>T (p.Arg3367Leu) rs759549373
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657
NM_001377.3(DYNC2H1):c.10594C>T (p.Gln3532Ter) rs1565438488
NM_001377.3(DYNC2H1):c.11312C>T (p.Ala3771Val) rs760635983
NM_001377.3(DYNC2H1):c.12831G>T (p.Arg4277Ser) rs372878677
NM_001377.3(DYNC2H1):c.2353C>T (p.Arg785Ter) rs755883373
NM_001377.3(DYNC2H1):c.3638T>G (p.Leu1213Arg) rs886039812
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys) rs745870321
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val) rs1043384862
NM_001377.3(DYNC2H1):c.6387G>T (p.Trp2129Cys) rs1332318318
NM_001377.3(DYNC2H1):c.6834G>T (p.Trp2278Cys) rs1384888093
NM_001377.3(DYNC2H1):c.8190G>T (p.Leu2730Phe) rs770800903
NM_001377.3(DYNC2H1):c.8283del (p.Phe2761fs)
NM_001377.3(DYNC2H1):c.8339T>C (p.Leu2780Ser) rs1565394086
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001377.3(DYNC2H1):c.9820A>C (p.Ser3274Arg) rs371932985
NM_152766.5(TMEM256):c.244_265del (p.Phe82fs) rs886039795
NM_174905.3(FAM98C):c.844C>T (p.Arg282Ter) rs201037487

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.