ClinVar Miner

List of variants reported as pathogenic for Meier-Gorlin syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505 0.00028
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) rs143141689 0.00016
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_003504.5(CDC45):c.469C>T (p.Arg157Cys) rs540217942 0.00010
NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp) rs201253919 0.00010
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp) rs778665661 0.00006
NM_030928.4(CDT1):c.1402G>A (p.Glu468Lys) rs200652608 0.00006
NM_017613.4(DONSON):c.494T>C (p.Phe165Ser) rs1010722195 0.00005
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) rs387906917 0.00005
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys) rs387906847 0.00004
NM_017613.4(DONSON):c.670C>T (p.Pro224Ser) rs1028163227 0.00003
NM_003504.5(CDC45):c.677A>G (p.Asp226Gly) rs754080445 0.00002
NM_004153.4(ORC1):c.2159G>A (p.Arg720Gln) rs387906828 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_003504.5(CDC45):c.318C>T (p.Val106=) rs745800041 0.00001
NM_004153.4(ORC1):c.217G>A (p.Glu73Lys) rs373671398 0.00001
NM_004153.4(ORC1):c.266T>C (p.Phe89Ser) rs387906827 0.00001
NM_005916.5(MCM7):c.1616A>G (p.Tyr539Cys) rs778583017 0.00001
NM_006739.4(MCM5):c.850_851del (p.Arg284fs) rs760621295 0.00001
NM_030928.4(CDT1):c.196G>A (p.Ala66Thr) rs387906918 0.00001
NM_181741.4(ORC4):c.623C>G (p.Ser208Ter) rs535159793 0.00001
NM_181741.4(ORC4):c.870_873dup (p.Ala292fs) rs797044461 0.00001
NM_001190818.1(ORC1):c.2392-249_*3804del
NM_001254.4(CDC6):c.968C>G (p.Thr323Arg) rs387906842
NM_003504.5(CDC45):c.(342+1_343-1)_(486+1_487-1)del
NM_003504.5(CDC45):c.1445_1448del (p.Lys482fs) rs1933800287
NM_003504.5(CDC45):c.203A>G (p.Gln68Arg) rs879255633
NM_003504.5(CDC45):c.226A>C (p.Asn76His) rs879255632
NM_003504.5(CDC45):c.326_329dup (p.Asn111fs) rs752023208
NM_003504.5(CDC45):c.333C>T (p.Asn111=) rs748749078
NM_003504.5(CDC45):c.893C>T (p.Ala298Val) rs146559223
NM_004153.4(ORC1):c.1482-2A>G rs1378348220
NM_004153.4(ORC1):c.1865T>C (p.Leu622Pro) rs2147923128
NM_004153.4(ORC1):c.1999_2000delinsA (p.Val667fs) rs1557573504
NM_004153.4(ORC1):c.237del (p.Pro80fs) rs1647490038
NM_004153.4(ORC1):c.380A>G (p.Glu127Gly) rs387906826
NM_004153.4(ORC1):c.403-2A>C rs2147941262
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_006739.4(MCM5):c.1397C>T (p.Thr466Ile) rs1131692169
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.602_605del (p.Lys201fs) rs879255692
NM_014321.4(ORC6):c.65G>A (p.Arg22Lys) rs2143010039
NM_014321.4(ORC6):c.695A>C (p.Tyr232Ser) rs387906969
NM_014321.4(ORC6):c.71C>T (p.Ala24Val) rs1279789023
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_017613.4(DONSON):c.631C>T (p.Arg211Cys) rs774052186
NM_030928.4(CDT1):c.1078_1080del (p.Ala360del) rs1567502140
NM_030928.4(CDT1):c.1276-24A>G rs2142945856
NM_030928.4(CDT1):c.1560C>G (p.Tyr520Ter) rs147914553
NM_030928.4(CDT1):c.166_167delinsA (p.Ala56fs)
NM_030928.4(CDT1):c.351G>C (p.Gln117His) rs779871947
NM_030928.4(CDT1):c.832+1G>A rs587780305
NM_181741.4(ORC4):c.1226del (p.Thr409fs) rs797045852
NM_181741.4(ORC4):c.1A>G (p.Met1Val) rs1085307083
NM_181742.3(ORC4):c.(-18+1_-17-1)_(762+1_773-1)del

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