ClinVar Miner

List of variants in gene KMT2D reported as likely pathogenic for not provided

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.10356-12G>A rs1555189467
NM_003482.4(KMT2D):c.10507+4A>G rs2120456590
NM_003482.4(KMT2D):c.10574T>C (p.Leu3525Pro) rs1555189307
NM_003482.4(KMT2D):c.10740G>A (p.Gln3580=) rs398123700
NM_003482.4(KMT2D):c.10745G>A (p.Arg3582Gln) rs2120449499
NM_003482.4(KMT2D):c.11395C>T (p.Gln3799Ter) rs786205478
NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter) rs398123708
NM_003482.4(KMT2D):c.11787del (p.Gln3929fs) rs1943014403
NM_003482.4(KMT2D):c.12231dup (p.Val4078fs) rs1942968938
NM_003482.4(KMT2D):c.1258+5G>A rs2120689175
NM_003482.4(KMT2D):c.13032del (p.Lys4345fs) rs398123716
NM_003482.4(KMT2D):c.13156_13163del (p.Thr4386fs)
NM_003482.4(KMT2D):c.14382+1G>C rs1555186428
NM_003482.4(KMT2D):c.14417_14424del (p.Leu4806fs)
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.4(KMT2D):c.15104G>C (p.Cys5035Ser) rs398123723
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.4(KMT2D):c.15467A>G (p.Tyr5156Cys) rs769483933
NM_003482.4(KMT2D):c.15641G>A (p.Arg5214His) rs398123729
NM_003482.4(KMT2D):c.15785-10T>G rs1555185358
NM_003482.4(KMT2D):c.15854C>G (p.Pro5285Arg) rs1555185337
NM_003482.4(KMT2D):c.16012T>C (p.Cys5338Arg) rs1057524689
NM_003482.4(KMT2D):c.16361del (p.Arg5454fs)
NM_003482.4(KMT2D):c.16412G>A (p.Arg5471Lys) rs1555184684
NM_003482.4(KMT2D):c.16442G>A (p.Cys5481Tyr) rs1388523736
NM_003482.4(KMT2D):c.16500del (p.Arg5501fs)
NM_003482.4(KMT2D):c.2317del (p.Gln773fs) rs1565817210
NM_003482.4(KMT2D):c.2T>C (p.Met1Thr) rs1057520167
NM_003482.4(KMT2D):c.4139G>T (p.Cys1380Phe)
NM_003482.4(KMT2D):c.4198T>C (p.Cys1400Arg)
NM_003482.4(KMT2D):c.4344_4345del (p.Cys1448_Asp1449delinsTer) rs1064797168
NM_003482.4(KMT2D):c.49+2T>A rs767591619
NM_003482.4(KMT2D):c.5227C>T (p.Gln1743Ter) rs1943663823
NM_003482.4(KMT2D):c.571C>T (p.Arg191Trp) rs1555198522
NM_003482.4(KMT2D):c.5983G>T (p.Gly1995Ter) rs1393276376
NM_003482.4(KMT2D):c.709G>T (p.Glu237Ter) rs1159611979
NM_003482.4(KMT2D):c.7939G>A (p.Asp2647Asn) rs2120517648
NM_003482.4(KMT2D):c.8104C>T (p.Gln2702Ter) rs2120512857
NM_003482.4(KMT2D):c.8366+2T>C rs1943368267
NM_003482.4(KMT2D):c.8366G>A (p.Arg2789Gln)

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