ClinVar Miner

List of variants in gene MEOX1 reported as pathogenic for Klippel-Feil syndrome 2, autosomal recessive

Included ClinVar conditions (1):
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Total variants: 3
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HGVS dbSNP
NM_004527.4(MEOX1):c.250C>T (p.Gln84Ter) rs713993044
NM_004527.4(MEOX1):c.664C>T (p.Arg222Ter) rs772798486
NM_004527.4(MEOX1):c.94del (p.Ala32fs) rs1567750527

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