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

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NC_000003.12:g.(?_169481351)_(169484227_?)del
NM_001134225.2(INPP4A):c.36C>T (p.Ala12=)	rs1306444586
NM_004991.4(MECOM):c.38-100973_38-100960del	rs1751472744
NM_004991.4(MECOM):c.38-101210del	rs1751515079
NM_004991.4(MECOM):c.38-101211_38-101210del	rs1751515631
NR_001566.1(TERC):n.114_115del
NR_001566.1(TERC):n.306T>G	rs1553915591
NR_001566.1(TERC):n.407_408delinsAA	rs1553915580
NR_001566.1(TERC):n.443C>A	rs1553915577

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