ClinVar Miner

List of variants studied for achondrogenesis type IA by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004239.4(TRIP11):c.4459_4460del (p.Met1487fs) rs2140115541
NM_004239.4(TRIP11):c.5420G>T (p.Gly1807Val) rs2056449254
NM_004239.4(TRIP11):c.763C>T (p.Arg255Ter) rs2140131376

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