ClinVar Miner

List of variants studied for Kabuki syndrome by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001291415.2(KDM6A):c.2519C>G (p.Ala840Gly) rs2044746153
NM_001291415.2(KDM6A):c.3677G>A (p.Trp1226Ter) rs746435548
NM_003482.4(KMT2D):c.10552C>T (p.Gln3518Ter) rs2120454881
NM_003482.4(KMT2D):c.16019G>A (p.Arg5340Gln) rs1565756106
NM_003482.4(KMT2D):c.3761A>C (p.Glu1254Ala) rs1937821838
NM_003482.4(KMT2D):c.4168del (p.Ala1390fs) rs756471180
NM_003482.4(KMT2D):c.538_539insA (p.Ala180fs) rs1938253506
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003482.4(KMT2D):c.6302C>T (p.Ala2101Val) rs1943527215

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