ClinVar Miner

List of variants reported as uncertain significance for achondrogenesis type IA by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_004239.4(TRIP11):c.1934_1937AAGA[1] (p.Arg647fs) rs773312108
NM_004239.4(TRIP11):c.5719+2T>C rs199736345
NM_004239.4(TRIP11):c.586C>T (p.Gln196Ter) rs149079426

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