ClinVar Miner

List of variants reported as likely benign for Riley-Day syndrome by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (2):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_003640.5(ELP1):c.2587+14C>T	rs141670242	0.01614
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)	rs10979599	0.00218

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