List of variants in gene KMT2A reported as pathogenic for developmental disorder of mental health

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001197104.2(KMT2A):c.10023dup (p.Ser3342fs)	rs2134409465
NM_001197104.2(KMT2A):c.1142dup (p.Ala383fs)	rs1949956477
NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter)	rs1555039343
NM_001197104.2(KMT2A):c.3920dup (p.Gln1308fs)	rs1950141561
NM_001197104.2(KMT2A):c.502+1G>A	rs1591371152
NM_001197104.2(KMT2A):c.654_679delinsTTTACT (p.Glu219fs)	rs1949946887
NM_001197104.2(KMT2A):c.7020del (p.Asn2340fs)	rs1950523317
NM_001197104.2(KMT2A):c.766dup (p.Ile256fs)	rs1565278132
NM_001197104.2(KMT2A):c.7975C>T (p.Arg2659Ter)	rs1950540436
NM_001197104.2(KMT2A):c.9714_9735del (p.Pro3239fs)	rs1950567837

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