ClinVar Miner

List of variants in gene ORC6 studied for Meier-Gorlin syndrome 3

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_014321.4(ORC6):c.675T>C (p.Asp225=) rs34343511 0.01913
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.2T>C (p.Met1Thr) rs146795505 0.00028
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.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.196-1G>A rs748927298 0.00007
NM_014321.4(ORC6):c.556G>T (p.Val186Phe) rs368692007 0.00007
NM_014321.4(ORC6):c.*217C>T rs143138864 0.00006
NM_014321.4(ORC6):c.235T>A (p.Tyr79Asn) rs200089121 0.00004
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.*479G>A rs533502054 0.00001
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.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.199del (p.Tyr67fs) rs1567273817
NM_014321.4(ORC6):c.1A>G (p.Met1Val) rs777153067
NM_014321.4(ORC6):c.257_258del (p.Ser85_Phe86insTer) rs786205258
NM_014321.4(ORC6):c.360-13A>G rs797045853
NM_014321.4(ORC6):c.360-1G>T
NM_014321.4(ORC6):c.602_605del (p.Lys201fs) rs879255692
NM_014321.4(ORC6):c.65G>A (p.Arg22Lys) rs2143010039
NM_014321.4(ORC6):c.682C>G (p.Leu228Val) rs768760107
NM_014321.4(ORC6):c.695A>C (p.Tyr232Ser) rs387906969
NM_014321.4(ORC6):c.71C>T (p.Ala24Val) rs1279789023

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