ClinVar Miner

List of variants studied for Interstitial lung disease 2; Dyskeratosis congenita, autosomal dominant 2

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NC_000005.10:g.(?_1253708)_(1258679_?)dup
NC_000005.10:g.(?_1253708)_(1272300_?)dup
NC_000005.10:g.(?_1253728)_(1255421_?)dup
NC_000005.10:g.(?_1280152)_(1280344_?)del
NC_000005.10:g.(?_218346)_(1295046_?)del
NC_000005.10:g.(?_218349)_(1297373_?)del
NC_000005.10:g.(?_218349)_(1297373_?)dup
NC_000005.9:g.(?_1253833)_(1253956_?)dup
NC_000005.9:g.(?_1253833)_(1255536_?)dup
NC_000005.9:g.(?_1253833)_(1258784_?)dup
NC_000005.9:g.(?_1253833)_(1272405_?)dup
NC_000005.9:g.(?_1253833)_(1295114_?)dup
NC_000005.9:g.(?_1253833)_(1295161_?)dup
NC_000005.9:g.(?_1253837)_(1295110_?)dup
NC_000005.9:g.(?_1253843)_(1258784_?)dup
NC_000005.9:g.(?_1253843)_(1272405_?)dup
NC_000005.9:g.(?_1253843)_(1297488_?)del
NC_000005.9:g.(?_1253843)_(1297488_?)dup
NC_000005.9:g.(?_1293418)_(1295161_?)dup
NM_198253.3(TERT):c.1434G>A (p.Trp478Ter) rs1751122711
NM_198253.3(TERT):c.1639T>G (p.Trp547Gly) rs1223467172
NM_198253.3(TERT):c.2525G>A (p.Cys842Tyr) rs1748789851
NM_198253.3(TERT):c.2583-3T>C rs111436818
NM_198253.3(TERT):c.285C>A (p.Asn95Lys) rs1751267963
NM_198253.3(TERT):c.2882A>G (p.Asn961Ser) rs1561190919
NM_198253.3(TERT):c.3229G>C (p.Ala1077Pro) rs1579542647
NM_198253.3(TERT):c.3256C>G (p.Arg1086Gly) rs1747563544
NM_198253.3(TERT):c.638C>T (p.Pro213Leu) rs773202955
NM_198253.3(TERT):c.981G>T (p.Glu327Asp) rs1751174775
Single allele

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