ClinVar Miner

List of variants in gene combination RIPPLY2, RIPPLY2-CYB5R4 reported as likely pathogenic for Klippel-Feil syndrome 2, autosomal recessive

Included ClinVar conditions (1):

Klippel-Feil syndrome 2, autosomal recessive

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

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001009994.3(RIPPLY2):c.299del (p.Leu100fs)	rs864309489

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