ClinVar Miner

List of variants studied for Achondrogenesis, type IB by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.796dup (p.Thr266fs)	rs767996373	0.00001
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs)	rs386833498

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