ClinVar Miner

List of variants reported as likely pathogenic for Stiff skin syndrome

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)	rs794728291	0.00001
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys)	rs1161109360	0.00001
NM_000138.5(FBN1):c.8005G>C (p.Gly2669Arg)

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