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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)	rs104893919	0.00012
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val)	rs104893916	0.00002
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del)	rs121908077
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)	rs104893920
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs)	rs386833498

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