List of variants in gene DNMT3A reported as likely pathogenic by GeneDx

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: 16

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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.1904G>A (p.Arg635Gln)	rs751562376	0.00003
NM_022552.5(DNMT3A):c.1015-2A>G	rs920946076	0.00001
NM_022552.5(DNMT3A):c.1907T>A (p.Val636Glu)	rs929806900	0.00001
NM_022552.5(DNMT3A):c.130_131dup (p.Ala45fs)	rs1553427894
NM_022552.5(DNMT3A):c.1450_1451dup (p.Gln485fs)	rs1131691760
NM_022552.5(DNMT3A):c.1684T>C (p.Cys562Arg)	rs1057520788
NM_022552.5(DNMT3A):c.1867dup (p.Tyr623fs)	rs1553412022
NM_022552.5(DNMT3A):c.1978T>C (p.Tyr660His)	rs1674056899
NM_022552.5(DNMT3A):c.2096G>A (p.Gly699Asp)
NM_022552.5(DNMT3A):c.2213T>G (p.Leu738Arg)	rs745714537
NM_022552.5(DNMT3A):c.2252TCT[1] (p.Phe752del)
NM_022552.5(DNMT3A):c.2478+1G>T	rs762213449
NM_022552.5(DNMT3A):c.2657del (p.Gln886fs)	rs1573291900
NM_022552.5(DNMT3A):c.700_709del (p.Gly234fs)	rs1553414444
NM_022552.5(DNMT3A):c.997G>A (p.Asp333Asn)	rs1573340335

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