ClinVar Miner

List of variants reported as likely pathogenic for Kabuki syndrome 1 by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.10232-1G>A
NM_003482.4(KMT2D):c.10502T>G (p.Val3501Gly) rs1565781216
NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr) rs1943100257
NM_003482.4(KMT2D):c.10690C>T (p.Leu3564Phe) rs2120452029
NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp) rs1943085639
NM_003482.4(KMT2D):c.1112+1G>C
NM_003482.4(KMT2D):c.13651_15785-305del
NM_003482.4(KMT2D):c.14075+1G>A rs1057516039
NM_003482.4(KMT2D):c.14076-2A>C rs1592110749
NM_003482.4(KMT2D):c.15157GACCTG[1] (p.5053DL[1]) rs398123725
NM_003482.4(KMT2D):c.15185G>C (p.Cys5062Ser)
NM_003482.4(KMT2D):c.15230T>C (p.Leu5077Pro) rs398123726
NM_003482.4(KMT2D):c.15397T>C (p.Cys5133Arg) rs2120360235
NM_003482.4(KMT2D):c.15536G>C (p.Arg5179Pro) rs267607237
NM_003482.4(KMT2D):c.15565G>A (p.Gly5189Arg) rs1555185701
NM_003482.4(KMT2D):c.15629A>G (p.Tyr5210Cys) rs1942587772
NM_003482.4(KMT2D):c.15921+1G>A rs1555185299
NM_003482.4(KMT2D):c.15922-1G>A
NM_003482.4(KMT2D):c.15922-2A>G rs2137710791
NM_003482.4(KMT2D):c.16052+2T>G
NM_003482.4(KMT2D):c.16295G>T (p.Arg5432Leu)
NM_003482.4(KMT2D):c.16338+1G>A rs1555184782
NM_003482.4(KMT2D):c.16338+2T>C rs1555184777
NM_003482.4(KMT2D):c.16339-1G>C rs2137705201
NM_003482.4(KMT2D):c.16339-2A>C
NM_003482.4(KMT2D):c.16529A>G (p.Tyr5510Cys) rs1383821738
NM_003482.4(KMT2D):c.2798-1G>A
NM_003482.4(KMT2D):c.3907-1G>A rs2120632521
NM_003482.4(KMT2D):c.4222T>G (p.Cys1408Gly) rs1555195432
NM_003482.4(KMT2D):c.4237-2A>G rs797045001
NM_003482.4(KMT2D):c.4267C>A (p.Arg1423Ser)
NM_003482.4(KMT2D):c.4359C>G (p.His1453Gln) rs767737749
NM_003482.4(KMT2D):c.49+1del rs1565826250
NM_003482.4(KMT2D):c.4963+1G>T
NM_003482.4(KMT2D):c.510+2T>C
NM_003482.4(KMT2D):c.5189-1G>C rs2120577091
NM_003482.4(KMT2D):c.5319+1G>A rs1057520722
NM_003482.4(KMT2D):c.5868-1G>A rs867333942
NM_003482.4(KMT2D):c.840-2A>G rs1555198201

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