ClinVar Miner

List of variants studied for Lethal tight skin contracture syndrome by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00007
NM_170707.4(LMNA):c.1931G>A (p.Arg644His) rs368386019 0.00004
NM_005857.5(ZMPSTE24):c.1259C>G (p.Ala420Gly) rs200751802 0.00002

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