ClinVar Miner

List of variants reported as likely pathogenic for Achondrogenesis, type IB by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)	rs386833497	0.00003
NM_000112.4(SLC26A2):c.145del (p.Arg49fs)	rs1265764649	0.00001
NM_000112.4(SLC26A2):c.2017_2018del (p.Asp673fs)	rs772515802

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