ClinVar Miner

List of variants reported for Trichorhinophalangeal dysplasia type I by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014112.5(TRPS1):c.1288_1296del (p.Ile430_Pro432del)
NM_014112.5(TRPS1):c.782_785dup (p.Leu263fs)
NM_014112.5(TRPS1):c.812C>T (p.Ala271Val) rs1818333751

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