ClinVar Miner

List of variants studied for Klippel-Feil syndrome 2, autosomal recessive by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_004527.4(MEOX1):c.514C>T (p.Arg172Cys)
NM_004527.4(MEOX1):c.94del (p.Ala32fs) rs1567750527

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