ClinVar Miner

List of variants in gene KMT2D studied for developmental disorder of mental health

Included ClinVar conditions (728):
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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.2306A>C (p.His769Pro) rs550637969 0.00003
NM_003482.4(KMT2D):c.6421G>A (p.Gly2141Arg) rs373429610 0.00002
NM_003482.4(KMT2D):c.935C>A (p.Ala312Asp) rs750484458 0.00002
NM_003482.4(KMT2D):c.2209C>T (p.Arg737Trp) rs539274614 0.00001
NM_003482.4(KMT2D):c.11132C>G (p.Pro3711Arg) rs967055107
NM_003482.4(KMT2D):c.11226GCA[5] (p.Gln3745dup) rs760816616
NM_003482.4(KMT2D):c.11838A>C (p.Gln3946His) rs1421051475
NM_003482.4(KMT2D):c.11886A>T (p.Gln3962His) rs180784366
NM_003482.4(KMT2D):c.12568A>T (p.Ile4190Phe) rs1565774358
NM_003482.4(KMT2D):c.13433G>C (p.Arg4478Pro) rs200156008
NM_003482.4(KMT2D):c.13491_13495del (p.Leu4498fs) rs1942891632
NM_003482.4(KMT2D):c.14468C>T (p.Pro4823Leu) rs1942697370
NM_003482.4(KMT2D):c.14969T>C (p.Leu4990Pro) rs1942629941
NM_003482.4(KMT2D):c.15047T>C (p.Leu5016Pro)
NM_003482.4(KMT2D):c.15962A>G (p.Tyr5321Cys) rs1942487296
NM_003482.4(KMT2D):c.16146C>G (p.His5382Gln)
NM_003482.4(KMT2D):c.16445T>A (p.Val5482Glu)
NM_003482.4(KMT2D):c.1769dup (p.Met590fs) rs1565819425
NM_003482.4(KMT2D):c.4128_4129delinsAA (p.Met1376_Gln1377delinsIleLys) rs1937708623
NM_003482.4(KMT2D):c.417C>G (p.His139Gln)
NM_003482.4(KMT2D):c.538G>T (p.Ala180Ser) rs1938253682
NM_003482.4(KMT2D):c.5921C>G (p.Thr1974Arg) rs777415982
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003482.4(KMT2D):c.9302C>T (p.Pro3101Leu) rs1271758887

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