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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