ClinVar Miner

List of variants in gene MECOM reported as pathogenic for congenital limb malformation

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp) rs864309724
NM_004991.4(MECOM):c.2816A>G (p.His939Arg) rs864309723
NM_004991.4(MECOM):c.2830A>G (p.Thr944Ala) rs864309722
NM_004991.4(MECOM):c.2849G>C (p.Arg950Thr) rs2148947240

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