ClinVar Miner

List of variants studied for Achondrogenesis, type IB by Genome-Nilou Lab

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_000112.4(SLC26A2):c.782C>G (p.Ser261Cys) rs114260147 0.00075
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_000112.4(SLC26A2):c.704C>T (p.Ala235Val) rs777906405 0.00009
NM_000112.4(SLC26A2):c.1058A>G (p.His353Arg) rs1392464335
NM_000112.4(SLC26A2):c.1241C>T (p.Ala414Val) rs2113698470
NM_000112.4(SLC26A2):c.1668G>T (p.Leu556Phe) rs2113699055
NM_000112.4(SLC26A2):c.1849G>A (p.Ala617Thr) rs2113699347

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