ClinVar Miner

List of variants studied for achondrogenesis type IA by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436 0.00835
NM_004239.4(TRIP11):c.-333G>A rs559266963 0.00038
NM_004239.4(TRIP11):c.107A>T (p.Asp36Val) rs186074112 0.00026
NM_004239.4(TRIP11):c.1289A>G (p.Glu430Gly) rs142579179 0.00024
NM_004239.4(TRIP11):c.4712G>A (p.Arg1571His) rs534500568 0.00001

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