ClinVar Miner

List of variants studied for achondrogenesis type IA by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_004239.4(TRIP11):c.1159G>A (p.Val387Met) rs376669587
NM_004239.4(TRIP11):c.1265T>C (p.Met422Thr)
NM_004239.4(TRIP11):c.1271T>G (p.Ile424Ser)
NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter)
NM_004239.4(TRIP11):c.1547A>G (p.Asp516Gly) rs1018806781
NM_004239.4(TRIP11):c.2138C>A (p.Thr713Asn)
NM_004239.4(TRIP11):c.2237T>C (p.Leu746Pro) rs745959376
NM_004239.4(TRIP11):c.223T>C (p.Cys75Arg)
NM_004239.4(TRIP11):c.2377A>G (p.Lys793Glu)
NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter)
NM_004239.4(TRIP11):c.2603A>G (p.Glu868Gly)
NM_004239.4(TRIP11):c.3352_3353del (p.Glu1118fs) rs1566859264
NM_004239.4(TRIP11):c.3370G>A (p.Asp1124Asn)
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918
NM_004239.4(TRIP11):c.4050A>C (p.Glu1350Asp) rs548160101
NM_004239.4(TRIP11):c.405T>C (p.Ala135=) rs77981249
NM_004239.4(TRIP11):c.4130T>C (p.Ile1377Thr)
NM_004239.4(TRIP11):c.4812T>C (p.Asp1604=) rs17127837
NM_004239.4(TRIP11):c.5149A>T (p.Ile1717Leu)
NM_004239.4(TRIP11):c.5169G>A (p.Leu1723=) rs2038276
NM_004239.4(TRIP11):c.5470G>A (p.Asp1824Asn) rs550137986
NM_004239.4(TRIP11):c.5479G>T (p.Gly1827Cys)
NM_004239.4(TRIP11):c.5719+2T>C rs199736345
NM_004239.4(TRIP11):c.5781G>A (p.Ser1927=) rs3742719
NM_004239.4(TRIP11):c.615_616CT[1] (p.Asn205_Ser206insTer) rs1566867763
NM_004239.4(TRIP11):c.61G>A (p.Gly21Ser)
NM_004239.4(TRIP11):c.754C>A (p.Arg252=) rs186197454
NM_004239.4(TRIP11):c.986_987GA[1] (p.Asp330fs)

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.