List of variants in gene DNMT3A reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_022552.5(DNMT3A):c.2711C>T (p.Pro904Leu)	rs149095705	0.00006
NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter)	rs779626155	0.00004
NM_022552.5(DNMT3A):c.1028del (p.Lys343fs)
NM_022552.5(DNMT3A):c.1044del (p.Ser349fs)
NM_022552.5(DNMT3A):c.1346del (p.Ala449fs)	rs2149300394
NM_022552.5(DNMT3A):c.1555-1G>T
NM_022552.5(DNMT3A):c.1802G>A (p.Trp601Ter)
NM_022552.5(DNMT3A):c.1851+1G>C	rs928051436
NM_022552.5(DNMT3A):c.2048_2053delinsC (p.Tyr683fs)
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)	rs377577594
NM_022552.5(DNMT3A):c.890G>A (p.Trp297Ter)	rs944608317

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