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

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NR_001566.1(TERC):n.228G>A	rs141686314	0.00478
NR_001566.1(TERC):n.37A>G	rs199422261	0.00003
NR_001566.1(TERC):n.35C>T	rs199422260	0.00001
NM_032487.4(ACTRT3):c.831_*2687del2976
NR_001566.1(TERC):n.-240_-239del	rs199422255
NR_001566.1(TERC):n.100T>A	rs199422269
NR_001566.1(TERC):n.107_108delinsAG	rs199476393
NR_001566.1(TERC):n.110_113del	rs199422270
NR_001566.1(TERC):n.116C>T	rs199422272
NR_001566.1(TERC):n.143G>A	rs199422274
NR_001566.1(TERC):n.204C>G	rs199422277
NR_001566.1(TERC):n.216_229del	rs199422278
NR_001566.1(TERC):n.2G>C	rs199422257
NR_001566.1(TERC):n.374_1194del821	rs1553915517
NR_001566.1(TERC):n.408C>G	rs199422284
NR_001566.1(TERC):n.410C>G	rs199422286
NR_001566.1(TERC):n.48A>G	rs199422262
NR_001566.1(TERC):n.53_87del	rs199422264
NR_001566.1(TERC):n.54_57del	rs199422263
NR_001566.1(TERC):n.67del	rs1777964165
NR_001566.1(TERC):n.79del	rs199422266
NR_001566.1(TERC):n.96_97del	rs199422267
TERT:c.1710G>Y (p.Lys570Asn)	rs1554041299

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