ClinVar Miner

List of variants in gene TERC studied for Dyskeratosis congenita, autosomal dominant 1

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Gene type:
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NR_001566.1(TERC):n.382A>G rs1777958465 0.00001
NR_001566.1(TERC):n.390C>A rs1777958283 0.00001
NR_001566.1(TERC):n.395G>T rs1415109076 0.00001
NR_001566.1(TERC):n.397G>A rs767519425 0.00001
NR_001566.1(TERC):n.409C>T rs766203739 0.00001
NR_001566.1(TERC):n.415C>T rs762726864 0.00001
NR_001566.1(TERC):n.423C>T rs776902194 0.00001
NR_001566.1(TERC):n.430C>G rs1230531511 0.00001
NR_001566.1(TERC):n.431C>T rs1374142931 0.00001
NR_001566.1(TERC):n.432A>G rs1479831336 0.00001
NR_001566.1(TERC):n.450G>A rs199422287 0.00001
NR_001566.1(TERC):n.451C>T rs1060502986 0.00001
NC_000003.11:g.(?_169482398)_(169482848_?)dup
NC_000003.12:g.(?_169764590)_(169765080_?)dup
NC_000003.12:g.(?_169764600)_(169765070_?)dup
NC_000003.12:g.(?_169764600)_(169765159_?)dup
NR_001566.1(TERC):n.373G>T rs1777958605
NR_001566.1(TERC):n.375G>A
NR_001566.1(TERC):n.380G>A
NR_001566.1(TERC):n.384C>T rs1777958436
NR_001566.1(TERC):n.385G>A
NR_001566.1(TERC):n.385G>C
NR_001566.1(TERC):n.389C>A
NR_001566.1(TERC):n.389C>T rs762378141
NR_001566.1(TERC):n.391C>T rs1046452760
NR_001566.1(TERC):n.392C>A rs1777957949
NR_001566.1(TERC):n.393G>A
NR_001566.1(TERC):n.395G>A
NR_001566.1(TERC):n.396C>T rs1483089001
NR_001566.1(TERC):n.397G>C rs767519425
NR_001566.1(TERC):n.401C>T rs759566601
NR_001566.1(TERC):n.404G>T rs2108182785
NR_001566.1(TERC):n.405A>G rs138034348
NR_001566.1(TERC):n.407_408delinsAA rs1553915580
NR_001566.1(TERC):n.408C>G rs199422284
NR_001566.1(TERC):n.408C>T rs199422284
NR_001566.1(TERC):n.410C>G rs199422286
NR_001566.1(TERC):n.424G>T rs1337708802
NR_001566.1(TERC):n.427C>T rs1777957096
NR_001566.1(TERC):n.431dup rs1777957000
NR_001566.1(TERC):n.432A>C rs1479831336
NR_001566.1(TERC):n.432A>T
NR_001566.1(TERC):n.433G>A
NR_001566.1(TERC):n.434G>A rs2108182735
NR_001566.1(TERC):n.439G>A rs1777956819
NR_001566.1(TERC):n.439G>C rs1777956819
NR_001566.1(TERC):n.440G>A rs2108182728
NR_001566.1(TERC):n.443C>A rs1553915577
NR_001566.1(TERC):n.444A>G rs1560578539
NR_001566.1(TERC):n.446_449dup rs1777956725
NR_001566.1(TERC):n.449T>G rs2108182721
NR_001566.1(TERC):n.450dup
NR_001566.1(TERC):n.514A>G rs2293607

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