ClinVar Miner

List of variants reported as likely pathogenic for Tatton-Brown-Rahman overgrowth syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) rs144689354 0.00006
NM_022552.5(DNMT3A):c.2141C>G (p.Ser714Cys) rs367909007 0.00002
NM_022552.5(DNMT3A):c.2086C>T (p.Gln696Ter) rs750325978 0.00001
NM_022552.5(DNMT3A):c.1523T>C (p.Leu508Pro)
NM_022552.5(DNMT3A):c.1554+1G>A rs766110518
NM_022552.5(DNMT3A):c.1627G>A (p.Gly543Ser)
NM_022552.5(DNMT3A):c.1634A>G (p.Glu545Gly) rs1553412485
NM_022552.5(DNMT3A):c.1667+1G>A
NM_022552.5(DNMT3A):c.1669T>C (p.Cys557Arg)
NM_022552.5(DNMT3A):c.1711dup (p.Ala571fs) rs1558665485
NM_022552.5(DNMT3A):c.1851+3G>C rs2149288538
NM_022552.5(DNMT3A):c.2105A>G (p.Asp702Gly)
NM_022552.5(DNMT3A):c.2153del (p.Pro718fs)
NM_022552.5(DNMT3A):c.2186G>A (p.Arg729Gln)
NM_022552.5(DNMT3A):c.2311C>G (p.Arg771Gly)
NM_022552.5(DNMT3A):c.2312G>A (p.Arg771Gln) rs757823678
NM_022552.5(DNMT3A):c.2409-1G>A rs866917013
NM_022552.5(DNMT3A):c.2479-1G>A
NM_022552.5(DNMT3A):c.2495C>T (p.Thr832Ile) rs1573297136
NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg) rs771174392
NM_022552.5(DNMT3A):c.2540_2541del (p.His847fs) rs1558653090
NM_022552.5(DNMT3A):c.2598-1G>C
NM_022552.5(DNMT3A):c.855+1G>A rs772041639
NM_022552.5(DNMT3A):c.890G>A (p.Trp297Ter) rs944608317
NM_022552.5(DNMT3A):c.895A>C (p.Lys299Gln) rs766858016
NM_022552.5(DNMT3A):c.920C>T (p.Pro307Leu) rs759380437
NM_022552.5(DNMT3A):c.994G>A (p.Gly332Arg) rs760854242

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