ClinVar Miner

List of variants reported as pathogenic for Greig cephalopolysyndactyly syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NC_000007.13:g.(?_39726267)_(42262852_?)del
NC_000007.13:g.(?_42000470)_(42005117_?)del
NC_000007.13:g.(?_42088070)_(42088315_?)del
NC_000007.13:g.(?_42116331)_(42188087_?)del
NC_000007.13:g.(?_42187805)_(42262872_?)del
NM_000168.6(GLI3):c.1096C>T (p.Arg366Ter) rs1583805203
NM_000168.6(GLI3):c.1433_1434del (p.Ile477_Tyr478insTer) rs1583801167
NM_000168.6(GLI3):c.1451G>A (p.Trp484Ter) rs1562690271
NM_000168.6(GLI3):c.1497+1G>A rs1399654830
NM_000168.6(GLI3):c.1555_1567del (p.Asp519fs)
NM_000168.6(GLI3):c.1648delT (p.Phe550fs)
NM_000168.6(GLI3):c.1778del (p.Arg593fs) rs1583747773
NM_000168.6(GLI3):c.1874G>A (p.Arg625Gln) rs1554306094
NM_000168.6(GLI3):c.1878del (p.Lys626fs) rs1554306093
NM_000168.6(GLI3):c.2090del (p.Ala697fs) rs2128709888
NM_000168.6(GLI3):c.2104-14C>G
NM_000168.6(GLI3):c.2146del (p.Gln716fs)
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter) rs121917714
NM_000168.6(GLI3):c.2432-1G>A rs2128706417
NM_000168.6(GLI3):c.245_299del (p.Arg82fs)
NM_000168.6(GLI3):c.2623del (p.Arg875fs)
NM_000168.6(GLI3):c.2720del (p.Ser907fs) rs1787182897
NM_000168.6(GLI3):c.2961C>G (p.Tyr987Ter)
NM_000168.6(GLI3):c.3147C>A (p.Tyr1049Ter)
NM_000168.6(GLI3):c.3324C>A (p.Tyr1108Ter) rs116840766
NM_000168.6(GLI3):c.3365_3366del (p.Val1122fs) rs2128705693
NM_000168.6(GLI3):c.3437_3453del (p.Leu1146fs) rs2128705618
NM_000168.6(GLI3):c.3442C>T (p.Gln1148Ter)
NM_000168.6(GLI3):c.3454del (p.Glu1152fs) rs1787146494
NM_000168.6(GLI3):c.3477del (p.Ile1160fs)
NM_000168.6(GLI3):c.3481C>T (p.Gln1161Ter) rs116840770
NM_000168.6(GLI3):c.3647_3665del (p.Leu1216fs)
NM_000168.6(GLI3):c.3762T>G (p.Tyr1254Ter) rs148043302
NM_000168.6(GLI3):c.3784_3787dup (p.Val1263fs) rs1787131313
NM_000168.6(GLI3):c.3874del (p.Gln1292fs) rs1787127981
NM_000168.6(GLI3):c.3904_3912delinsT (p.Asn1302fs) rs1562657560
NM_000168.6(GLI3):c.3956dup (p.Gln1320fs) rs2128705204
NM_000168.6(GLI3):c.4017_4018insG (p.Pro1340fs)
NM_000168.6(GLI3):c.4020del (p.Gly1341fs)
NM_000168.6(GLI3):c.4081G>T (p.Glu1361Ter)
NM_000168.6(GLI3):c.4172del (p.Gly1391fs) rs2128705042
NM_000168.6(GLI3):c.4315del (p.Tyr1439fs)
NM_000168.6(GLI3):c.4316_4724del (p.Tyr1439fs) rs1787098071
NM_000168.6(GLI3):c.4322_4326del (p.Gly1441fs)
NM_000168.6(GLI3):c.4354C>T (p.Gln1452Ter)
NM_000168.6(GLI3):c.4395del (p.Ser1466fs) rs1554304380
NM_000168.6(GLI3):c.4413del (p.Thr1472fs) rs2128704887
NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter) rs1057520063
NM_000168.6(GLI3):c.4498G>T (p.Glu1500Ter) rs1562656759
NM_000168.6(GLI3):c.4507C>T (p.Gln1503Ter) rs2128704828
NM_000168.6(GLI3):c.533dup (p.His179fs)
NM_000168.6(GLI3):c.548del (p.Thr183fs)
NM_000168.6(GLI3):c.558del (p.Glu187fs)
NM_000168.6(GLI3):c.600_601dup (p.Met201fs)
NM_000168.6(GLI3):c.602_675del (p.Met201fs) rs2128742642
NM_000168.6(GLI3):c.667_668del (p.Ser223fs)
NM_000168.6(GLI3):c.753T>G (p.Tyr251Ter) rs1583505882
NM_000168.6(GLI3):c.836dup (p.Ser280fs)
NM_000168.6(GLI3):c.868C>T (p.Arg290Ter) rs121917713
NM_000168.6(GLI3):c.877_881del (p.Thr293fs) rs1784103216
NM_000168.6(GLI3):c.885del (p.Ile296fs) rs1784103136
NM_000168.6(GLI3):c.91G>T (p.Glu31Ter) rs1788520333

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