ClinVar Miner

List of variants in gene ORC6 reported as uncertain significance for Meier-Gorlin syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_014321.4(ORC6):c.*598G>A rs201605699 0.00497
NM_014321.4(ORC6):c.*594A>G rs191163536 0.00350
NM_014321.4(ORC6):c.*640G>A rs368055096 0.00042
NM_014321.4(ORC6):c.413C>A (p.Pro138Gln) rs3218745 0.00027
NM_014321.4(ORC6):c.*232A>T rs531879095 0.00016
NM_014321.4(ORC6):c.*602A>G rs779826723 0.00016
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_014321.4(ORC6):c.*307A>G rs547544453 0.00014
NM_014321.4(ORC6):c.207T>G (p.Ile69Met) rs138076975 0.00014
NM_014321.4(ORC6):c.*582A>C rs570114406 0.00010
NM_014321.4(ORC6):c.*576dup rs771626686 0.00009
NM_014321.4(ORC6):c.196-1G>A rs748927298 0.00007
NM_014321.4(ORC6):c.556G>T (p.Val186Phe) rs368692007 0.00007
NM_014321.4(ORC6):c.23G>T (p.Arg8Leu) rs754832466 0.00003
NM_014321.4(ORC6):c.390A>T (p.Gln130His) rs372048763 0.00003
NM_014321.4(ORC6):c.450-4G>A rs886052013 0.00003
NM_014321.4(ORC6):c.96G>C (p.Arg32=) rs138213159 0.00003
NM_014321.4(ORC6):c.*363C>T rs768612856 0.00002
NM_014321.4(ORC6):c.-19T>C rs779856890 0.00002
NM_014321.4(ORC6):c.430G>A (p.Ala144Thr) rs1369065092 0.00002
NM_014321.4(ORC6):c.*517G>A rs771044771 0.00001
NM_014321.4(ORC6):c.*621T>C rs758041096 0.00001
NM_014321.4(ORC6):c.*807G>A rs753486103 0.00001
NM_014321.4(ORC6):c.27A>G (p.Leu9=) rs758376049 0.00001
NM_014321.4(ORC6):c.32C>G (p.Pro11Arg) rs757562073 0.00001
NM_014321.4(ORC6):c.552G>A (p.Gln184=) rs74999515 0.00001
NM_014321.4(ORC6):c.592C>T (p.Arg198Trp) rs376209987 0.00001
NM_014321.4(ORC6):c.*10C>G rs1405213929
NM_014321.4(ORC6):c.*115T>G rs886052014
NM_014321.4(ORC6):c.*170C>G rs577189944
NM_014321.4(ORC6):c.*452C>T rs768042955
NM_014321.4(ORC6):c.*524A>G rs1287188674
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.*764_*767del rs756903337
NM_014321.4(ORC6):c.199del (p.Tyr67fs) rs1567273817
NM_014321.4(ORC6):c.682C>G (p.Leu228Val) rs768760107

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