ClinVar Miner

List of variants studied for Meier-Gorlin syndrome

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_014321.4(ORC6):c.-20T>C rs33994299 0.33164
NM_014321.4(ORC6):c.-47G>A rs144065502 0.00280
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) rs143141689 0.00016
NM_014321.4(ORC6):c.*602A>G rs779826723 0.00016
NM_001254.4(CDC6):c.*511G>A rs886052905 0.00008
NM_014321.4(ORC6):c.*576dup rs771626686 0.00008
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) rs387906917 0.00006
NM_017613.4(DONSON):c.494T>C (p.Phe165Ser) rs1010722195 0.00005
NM_017613.4(DONSON):c.670C>T (p.Pro224Ser) rs1028163227 0.00003
NM_001254.4(CDC6):c.1581C>G (p.Thr527=) rs754533557 0.00002
NM_017613.4(DONSON):c.1634C>T (p.Pro545Leu) rs774616573 0.00002
NM_017613.4(DONSON):c.809A>G (p.Tyr270Cys) rs367904759 0.00002
NM_004153.3(ORC1):c.-199C>G rs886046401 0.00001
NM_005916.5(MCM7):c.1616A>G (p.Tyr539Cys) rs778583017 0.00001
NM_014321.4(ORC6):c.*807G>A rs753486103 0.00001
NM_017613.4(DONSON):c.631C>T (p.Arg211Cys) rs774052186 0.00001
NM_001254.4(CDC6):c.*358GTT[3] rs771752103
NM_001254.4(CDC6):c.134CTC[1] (p.Pro46del) rs776043160
NM_002388.6(MCM3):c.2282A>T (p.Gln761Leu) rs764129051
NM_005916.5(MCM7):c.1579C>T (p.Arg527Ter) rs76705400
NM_005916.5(MCM7):c.415C>T (p.Gln139Ter) rs1054083917
NM_005916.5(MCM7):c.776G>C (p.Gly259Ala) rs758105856
NM_014321.4(ORC6):c.*578AGAT[4] rs568119196
NM_014321.4(ORC6):c.*578AGAT[6] rs568119196
NM_014321.4(ORC6):c.*598delinsAGATGGATAGATAGATAGATA rs886052017
NM_014321.4(ORC6):c.*599GATA[10] rs60635029
NM_014321.4(ORC6):c.*599GATA[11] rs60635029
NM_014321.4(ORC6):c.*599GATA[13] rs60635029
NM_014321.4(ORC6):c.*599GATA[7] rs60635029
NM_014321.4(ORC6):c.*764_*767del rs756903337
NM_015895.5(GMNN):c.16A>T (p.Lys6Ter) rs864309486
NM_015895.5(GMNN):c.35_38del (p.Ile12fs) rs864309487
NM_015895.5(GMNN):c.50A>G (p.Lys17Arg) rs864309488
NM_017613.4(DONSON):c.607-36G>A rs752810960
NM_018206.6(VPS35):c.-34G>A rs3743928

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