ClinVar Miner

List of variants reported as pathogenic for Kabuki syndrome 1 by Clinical Genomics Laboratory, Stanford Medicine

Included ClinVar conditions (5):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter)	rs1057517992
NM_003482.4(KMT2D):c.6782dup (p.Gly2262fs)	rs2498400869
NM_003482.4(KMT2D):c.8488C>T (p.Arg2830Ter)	rs727503983

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