ClinVar Miner

List of variants studied for Achondrogenesis, type IB by OMIM

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Total variants: 5
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HGVS dbSNP
NM_000112.3(SLC26A2):c.1020_1022delTGT rs121908077
NM_000112.3(SLC26A2):c.1273A>G (p.Asn425Asp) rs104893920
NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.3(SLC26A2):c.2033G>T (p.Gly678Val) rs104893916
NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919

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