ClinVar Miner

List of variants reported as likely pathogenic for Klippel-Feil syndrome 2, autosomal recessive

Included ClinVar conditions (1):

Klippel-Feil syndrome 2, autosomal recessive

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001009994.3(RIPPLY2):c.299del (p.Leu100fs)	rs864309489
NM_004527.4(MEOX1):c.514C>T (p.Arg172Cys)
NM_004527.4(MEOX1):c.94del (p.Ala32fs)	rs1567750527

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