ClinVar Miner

List of variants reported as pathogenic for Dyskeratosis congenita, autosomal dominant 1 by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NR_001566.1(TERC):n.107_108delinsAG	rs199476393
NR_001566.1(TERC):n.374_1194del821	rs1553915517
NR_001566.1(TERC):n.408C>G	rs199422284
NR_001566.1(TERC):n.54_57del	rs199422263

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