ClinVar Miner

List of variants in gene combination DUPD1, KAT6B reported as not provided by Lee Lab(KAT6B), Baylor College of Medicine

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Total variants: 17
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HGVS dbSNP
NM_012330.3(KAT6B):c.3681_3696del16 (p.Asp1227Glufs) rs199470469
NM_012330.4(KAT6B):c.3765_3768TCTA[1] (p.Lys1258fs) rs199470470
NM_012330.4(KAT6B):c.3773dup (p.Trp1259fs) rs199470471
NM_012330.4(KAT6B):c.3788_3789del (p.Lys1263fs) rs199470472
NM_012330.4(KAT6B):c.3802G>T (p.Gly1268Ter) rs199470473
NM_012330.4(KAT6B):c.3877A>T (p.Lys1293Ter) rs199470474
NM_012330.4(KAT6B):c.3892G>T (p.Gly1298Ter) rs199470475
NM_012330.4(KAT6B):c.4069G>T (p.Glu1357Ter) rs199470476
NM_012330.4(KAT6B):c.4203_4204CT[1] (p.Ser1402fs) rs199470477
NM_012330.4(KAT6B):c.4360_4368delinsAAAAACCAAAA (p.Glu1454fs) rs199470478
NM_012330.4(KAT6B):c.4405dup (p.Ser1469fs) rs199470479
NM_012330.4(KAT6B):c.4900_4910AGTGCCATCTC[1] (p.Val1638fs) rs199470480
NM_012330.4(KAT6B):c.5030del (p.Thr1677fs) rs199470481
NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs) rs199470482
NM_012330.4(KAT6B):c.5370_5373dup (p.Ile1792fs) rs199470483
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter) rs199470484
NM_012330.4(KAT6B):c.5734A>T (p.Arg1912Ter) rs199470485

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