List of variants in gene combination DNMT3B, LOC126863014 reported as uncertain significance for autosomal recessive disease

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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: 35

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HGVS	dbSNP	gnomAD frequency
NM_006892.4(DNMT3B):c.1620G>A (p.Lys540=)	rs368295290	0.00026
NM_006892.4(DNMT3B):c.1538C>T (p.Ala513Val)	rs116943489	0.00021
NM_006892.4(DNMT3B):c.1591C>T (p.Arg531Cys)	rs200511977	0.00014
NM_006892.4(DNMT3B):c.1592G>A (p.Arg531His)	rs374520428	0.00011
NM_006892.4(DNMT3B):c.1542C>T (p.Ala514=)	rs140714949	0.00004
NM_006892.4(DNMT3B):c.1610G>A (p.Arg537Gln)	rs544333946	0.00004
NM_006892.4(DNMT3B):c.1633C>T (p.Arg545Cys)	rs372550911	0.00004
NM_006892.4(DNMT3B):c.1718G>A (p.Arg573Gln)	rs143300013	0.00004
NM_006892.4(DNMT3B):c.1586C>T (p.Pro529Leu)	rs767169378	0.00003
NM_006892.4(DNMT3B):c.1630G>A (p.Val544Met)	rs775688885	0.00003
NM_006892.4(DNMT3B):c.1615C>T (p.Arg539Trp)	rs562665925	0.00002
NM_006892.4(DNMT3B):c.1634G>A (p.Arg545His)	rs572676072	0.00001
NM_006892.4(DNMT3B):c.1661C>T (p.Thr554Met)	rs577581342	0.00001
NM_006892.4(DNMT3B):c.1491-8G>A
NM_006892.4(DNMT3B):c.1537G>T (p.Ala513Ser)
NM_006892.4(DNMT3B):c.1543G>A (p.Glu515Lys)
NM_006892.4(DNMT3B):c.1582C>T (p.Leu528Phe)	rs960330899
NM_006892.4(DNMT3B):c.1598A>G (p.His533Arg)	rs1601121318
NM_006892.4(DNMT3B):c.1609C>T (p.Arg537Trp)
NM_006892.4(DNMT3B):c.1613G>A (p.Arg538His)	rs1980937463
NM_006892.4(DNMT3B):c.1626G>C (p.Trp542Cys)
NM_006892.4(DNMT3B):c.1664G>T (p.Gly555Val)
NM_006892.4(DNMT3B):c.1675-9A>T
NM_006892.4(DNMT3B):c.1685A>G (p.Lys562Arg)
NM_006892.4(DNMT3B):c.1694C>G (p.Pro565Arg)
NM_006892.4(DNMT3B):c.1700T>C (p.Ile567Thr)
NM_006892.4(DNMT3B):c.1705G>A (p.Ala569Thr)
NM_006892.4(DNMT3B):c.1712G>A (p.Arg571Gln)
NM_006892.4(DNMT3B):c.1717C>T (p.Arg573Trp)
NM_006892.4(DNMT3B):c.1717_1718delinsTT (p.Arg573Leu)
NM_006892.4(DNMT3B):c.1727G>A (p.Arg576Gln)
NM_006892.4(DNMT3B):c.1749C>T (p.Gly583=)	rs2146036101
NM_006892.4(DNMT3B):c.1753G>A (p.Ala585Thr)	rs750849178
NM_006892.4(DNMT3B):c.1754C>T (p.Ala585Val)
NM_006892.4(DNMT3B):c.1758A>G (p.Thr586=)	rs1981038370

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