ClinVar Miner

List of variants in gene MECOM studied for congenital limb malformation

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004991.4(MECOM):c.2352T>C (p.Ser784=) rs370860789 0.00001
NM_004991.4(MECOM):c.1256C>T (p.Ser419Phe)
NM_004991.4(MECOM):c.1268A>C (p.His423Pro)
NM_004991.4(MECOM):c.1384G>T (p.Ala462Ser)
NM_004991.4(MECOM):c.2315C>T (p.Pro772Leu)
NM_004991.4(MECOM):c.2327G>A (p.Ser776Asn)
NM_004991.4(MECOM):c.2398A>T (p.Lys800Ter) rs1475580175
NM_004991.4(MECOM):c.2577+4A>T
NM_004991.4(MECOM):c.2772-4A>G
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
NM_004991.4(MECOM):c.2873_2875del (p.Phe958_Ser959delinsCys) rs2148891166
NM_004991.4(MECOM):c.2889C>G (p.Asn963Lys)
NM_004991.4(MECOM):c.3065C>T (p.Ala1022Val)
NM_004991.4(MECOM):c.405C>A (p.Phe135Leu)
NM_004991.4(MECOM):c.739C>T (p.Gln247Ter)

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