ClinVar Miner

List of variants reported for Dyskeratosis congenita, autosomal dominant 3 by Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) rs121918545
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_001099274.3(TINF2):c.865C>G (p.Pro289Ala) rs1555304055
NM_001099274.3(TINF2):c.968C>T (p.Ala323Val) rs2502454779

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