ClinVar Miner

List of variants in gene TRIP11 reported as uncertain significance for Achondrogenesis, type IA; Odontochondrodysplasia 1

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004239.4(TRIP11):c.-333G>A rs559266963 0.00038
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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