ClinVar Miner

List of variants reported as not provided for Ritscher-Schinzel syndrome 1 by GeneReviews

Included ClinVar conditions (3):

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_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys)	rs863225429
NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala)	rs863225428
NM_014846.4(WASHC5):c.3335+2T>A	rs398123007

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