ClinVar Miner

List of variants reported as likely pathogenic for Rubinstein-Taybi syndrome due to CREBBP mutations by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (5):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.5237G>T (p.Gly1746Val)	rs869312714
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter)	rs199821421
NM_004380.3(CREBBP):c.85+1G>A	rs1597099388

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