ClinVar Miner

List of variants in gene MEOX1 studied 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
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004527.4(MEOX1):c.250C>T (p.Gln84Ter)	rs713993044
NM_004527.4(MEOX1):c.514C>T (p.Arg172Cys)
NM_004527.4(MEOX1):c.664C>T (p.Arg222Ter)	rs772798486
NM_004527.4(MEOX1):c.94del (p.Ala32fs)	rs1567750527

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