ClinVar Miner

List of variants reported as pathogenic for Kabuki syndrome by Baylor Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.10496_10497del (p.Gln3499fs)
NM_003482.4(KMT2D):c.10688dup (p.Leu3564fs) rs1943096023
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.4(KMT2D):c.15640C>T (p.Arg5214Cys) rs398123728
NM_003482.4(KMT2D):c.15902_15903del (p.Val5301fs) rs1565756561
NM_003482.4(KMT2D):c.1634del (p.Leu545fs) rs886039399
NM_003482.4(KMT2D):c.204_205del (p.Leu68_Cys69insTer) rs1938301071
NM_003482.4(KMT2D):c.3854dup (p.Glu1287fs)
NM_003482.4(KMT2D):c.5104C>T (p.Arg1702Ter) rs886043414
NM_003482.4(KMT2D):c.6110-2A>G rs1943556576
NM_003482.4(KMT2D):c.7378del (p.Arg2460fs) rs1943453335
NM_003482.4(KMT2D):c.7613dup (p.Gln2540fs) rs1943436869
NM_003482.4(KMT2D):c.7938del (p.Asp2647fs) rs1943409769
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter) rs1555191598
NM_003482.4(KMT2D):c.8626C>T (p.Gln2876Ter)

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