ClinVar Miner

List of variants in gene KDM6A reported as benign for Kabuki syndrome 2

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP
NM_001291415.2(KDM6A):c.1558T>C (p.Cys520Arg) rs138723332
NM_001291415.2(KDM6A):c.2859-5T>C rs747739852
NM_021140.3(KDM6A):c.1527+3G>A rs61751429
NM_021140.3(KDM6A):c.1741A>G (p.Thr581Ala) rs34922269
NM_021140.3(KDM6A):c.1751C>T (p.Thr584Met) rs141353229
NM_021140.3(KDM6A):c.1843C>G (p.Leu615Val) rs112725812
NM_021140.3(KDM6A):c.2177C>T (p.Thr726Met) rs2230018
NM_021140.3(KDM6A):c.3714T>C (p.Ala1238=) rs142238688
NM_021140.3(KDM6A):c.48_50dup rs797044622
NM_021140.3(KDM6A):c.88G>A (p.Ala30Thr) rs6529

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