ClinVar Miner

List of variants reported as likely benign for developmental defect during embryogenesis by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 0.00344
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_016938.5(EFEMP2):c.368-4G>A rs111550973 0.00223
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu) rs116424900 0.00176
NM_001999.4(FBN2):c.953-8T>G rs201818403 0.00152
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=) rs142951817 0.00140
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083 0.00110
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156 0.00033
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316 0.00016
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=) rs199848479 0.00010
NM_000071.2(CBS):c.832_833ins68 (p.?)
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala) rs532620482

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