List of variants in gene DNMT3B reported as pathogenic for Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_006892.4(DNMT3B):c.2177T>G (p.Val726Gly)	rs121908941	0.00002
NM_006892.4(DNMT3B):c.2348_2349del (p.Gln783fs)	rs1368779496	0.00001
NM_006892.4(DNMT3B):c.1453C>T (p.Arg485Ter)
NM_006892.4(DNMT3B):c.145C>T (p.Arg49Ter)	rs1978602545
NM_006892.4(DNMT3B):c.1466_1488del (p.Leu489fs)
NM_006892.4(DNMT3B):c.160C>T (p.Arg54Ter)
NM_006892.4(DNMT3B):c.1817T>C (p.Val606Ala)
NM_006892.4(DNMT3B):c.1838T>C (p.Val613Ala)	rs1568857280
NM_006892.4(DNMT3B):c.2044_2047del (p.Ser682fs)
NM_006892.4(DNMT3B):c.2197C>T (p.Arg733Ter)
NM_006892.4(DNMT3B):c.2246C>A (p.Ser749Ter)	rs2146082310
NM_006892.4(DNMT3B):c.2292G>T (p.Arg764Ser)	rs759448571
NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met)	rs121908940
NM_006892.4(DNMT3B):c.691G>T (p.Gly231Ter)	rs2145960216
NM_006892.4(DNMT3B):c.754C>T (p.Arg252Ter)
NM_006892.4(DNMT3B):c.780G>A (p.Trp260Ter)	rs1979652729
NM_006892.4(DNMT3B):c.996del (p.Met332fs)	rs2145982663

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