ClinVar Miner

List of variants studied for Kabuki syndrome 1 by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter) rs727503979
NM_003482.4(KMT2D):c.50-2A>G rs2498473279
NM_003482.4(KMT2D):c.8311C>T (p.Arg2771Ter) rs1251778848

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