ClinVar Miner

List of variants reported as uncertain significance for Achondrogenesis

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.*4397A>G rs547302746 0.00009
NM_000112.4(SLC26A2):c.*4064dup rs886060247 0.00006
NM_004239.4(TRIP11):c.-58C>T rs886050909 0.00003
NM_000112.4(SLC26A2):c.*1221del rs886060233
NM_000112.4(SLC26A2):c.*1221dup rs886060233
NM_000112.4(SLC26A2):c.*3690CAG[1] rs886060246
NM_000112.4(SLC26A2):c.*4469dup rs397883627
NM_004239.4(TRIP11):c.*1339del rs35251290
NM_004239.4(TRIP11):c.*383del rs547231708
NM_004239.4(TRIP11):c.*383dup rs547231708

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