ClinVar Miner

List of variants reported as pathogenic for Achondrogenesis, type IB by Counsyl

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Total variants: 2
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NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919
NM_000112.3(SLC26A2):c.699+2T>C rs1057517461

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