ClinVar Miner

List of variants in gene MECOM studied for bone disorder

Included ClinVar conditions (1416):
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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_004991.4(MECOM):c.3013A>G (p.Met1005Val) rs200049869 0.00023
NM_004991.4(MECOM):c.405C>A (p.Phe135Leu) rs752754996 0.00003
NM_004991.4(MECOM):c.1301C>T (p.Ala434Val) rs1042646683 0.00001
NM_004991.4(MECOM):c.2352T>C (p.Ser784=) rs370860789 0.00001
NM_004991.4(MECOM):c.2548C>A (p.Pro850Thr) rs1727870436 0.00001
NM_004991.4(MECOM):c.1123C>T (p.Pro375Ser)
NM_004991.4(MECOM):c.1256C>T (p.Ser419Phe) rs1449004579
NM_004991.4(MECOM):c.1268A>C (p.His423Pro) rs2549415540
NM_004991.4(MECOM):c.1384G>T (p.Ala462Ser) rs756367370
NM_004991.4(MECOM):c.1630G>T (p.Ala544Ser) rs2149079059
NM_004991.4(MECOM):c.1827A>C (p.Lys609Asn)
NM_004991.4(MECOM):c.1834T>G (p.Phe612Val) rs1309343892
NM_004991.4(MECOM):c.2315C>T (p.Pro772Leu) rs2549403813
NM_004991.4(MECOM):c.2327G>A (p.Ser776Asn) rs2549403712
NM_004991.4(MECOM):c.2398A>T (p.Lys800Ter) rs1475580175
NM_004991.4(MECOM):c.2577+4A>T rs2549379424
NM_004991.4(MECOM):c.2592_2598del (p.Asp864fs)
NM_004991.4(MECOM):c.2762A>G (p.Tyr921Cys)
NM_004991.4(MECOM):c.2772-4A>G rs2549269204
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.2836G>A (p.Glu946Lys)
NM_004991.4(MECOM):c.2842C>G (p.Pro948Ala)
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) rs2549200204
NM_004991.4(MECOM):c.2893C>G (p.Gln965Glu) rs2148891074
NM_004991.4(MECOM):c.2905C>T (p.Arg969Cys) rs2148891037
NM_004991.4(MECOM):c.2906G>A (p.Arg969His) rs2148891008
NM_004991.4(MECOM):c.2906G>T (p.Arg969Leu) rs2148891008
NM_004991.4(MECOM):c.2912T>C (p.Ile971Thr) rs2148890956
NM_004991.4(MECOM):c.3065C>T (p.Ala1022Val) rs368424856
NM_004991.4(MECOM):c.3436G>T (p.Ala1146Ser)
NM_004991.4(MECOM):c.35C>A (p.Thr12Lys)
NM_004991.4(MECOM):c.375+7162G>T rs1015020275
NM_004991.4(MECOM):c.514T>C (p.Phe172Leu)
NM_004991.4(MECOM):c.627T>A (p.Tyr209Ter)
NM_004991.4(MECOM):c.695G>A (p.Cys232Tyr) rs2149176584
NM_004991.4(MECOM):c.739C>T (p.Gln247Ter) rs1240852654
NM_004991.4(MECOM):c.782C>T (p.Thr261Met) rs146635720

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