ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome by Centogene AG - the Rare Disease Company

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.3067del (p.Glu1022_Ile1023insTer) rs2059050708
NM_001429.4(EP300):c.3733del (p.Val1245fs)
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.6101del (p.Gly2034fs) rs2145519321
NM_001429.4(EP300):c.7220C>T (p.Ser2407Leu) rs1424813619

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