ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome by Clinical Genetics Laboratory, CHRU Nancy

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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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.2711C>T (p.Pro904Leu) rs149095705 0.00006
NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter) rs779626155 0.00004
NM_022552.5(DNMT3A):c.1904G>A (p.Arg635Gln) rs751562376 0.00003
NM_022552.5(DNMT3A):c.958C>T (p.Arg320Ter) rs778270132 0.00002
NM_022552.5(DNMT3A):c.1976G>A (p.Arg659His) rs752434188 0.00001
NM_022552.5(DNMT3A):c.1078_1095dup (p.Tyr365_Arg366insAsnLysGlnProMetTyr)
NM_022552.5(DNMT3A):c.1267G>T (p.Glu423Ter)
NM_022552.5(DNMT3A):c.1430-1G>C
NM_022552.5(DNMT3A):c.1684T>G (p.Cys562Gly)
NM_022552.5(DNMT3A):c.1925G>T (p.Gly642Val)
NM_022552.5(DNMT3A):c.1925del (p.Gly642fs)
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022552.5(DNMT3A):c.427C>T (p.Arg143Ter) rs1352259738

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