ClinVar Miner

List of variants reported as uncertain significance for Sengers syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_018238.4(AGK):c.*1024C>T rs78124534 0.00609
NM_018238.3(AGK):c.-100G>A rs552726046 0.00401
NM_018238.4(AGK):c.*319del rs142235678 0.00307
NM_018238.4(AGK):c.*933C>T rs73171606 0.00289
NM_018238.4(AGK):c.803C>A (p.Thr268Asn) rs142779190 0.00115
NM_018238.3(AGK):c.-162G>A rs148553992 0.00076
NM_018238.4(AGK):c.*621T>C rs192654792 0.00060
NM_018238.4(AGK):c.743A>C (p.His248Pro) rs150160397 0.00051
NM_018238.4(AGK):c.424-11T>C rs200973491 0.00044
NM_018238.4(AGK):c.*197C>T rs987287830 0.00043
NM_018238.4(AGK):c.1088C>T (p.Thr363Met) rs142069429 0.00043
NM_018238.4(AGK):c.877+14C>T rs41275003 0.00041
NM_018238.4(AGK):c.1131+11A>G rs202069684 0.00038
NM_018238.4(AGK):c.877+15G>A rs201052151 0.00029
NM_018238.4(AGK):c.742C>T (p.His248Tyr) rs78219214 0.00021
NM_018238.4(AGK):c.*1301C>T rs553433680 0.00019
NM_018238.4(AGK):c.727-9C>T rs199977261 0.00017
NM_018238.3(AGK):c.-75G>C rs560194759 0.00013
NM_018238.4(AGK):c.*1127C>A rs886062027 0.00013
NM_018238.4(AGK):c.*1237G>A rs202211411 0.00010
NM_018238.4(AGK):c.1052G>A (p.Arg351Gln) rs374861637 0.00010
NM_018238.4(AGK):c.-14-3T>C rs371437227 0.00009
NM_018238.4(AGK):c.*1126T>A rs1269074943 0.00008
NM_018238.4(AGK):c.684G>A (p.Gly228=) rs150732826 0.00005
NM_018238.4(AGK):c.55C>T (p.Leu19Phe) rs367844999 0.00004
NM_018238.4(AGK):c.*241A>G rs914935906 0.00003
NM_018238.4(AGK):c.*1319G>A rs535922151 0.00002
NM_018238.4(AGK):c.*758T>C rs1345762130 0.00002
NM_018238.4(AGK):c.-36G>A rs570988835 0.00002
NM_018238.3(AGK):c.-88G>C rs886062018 0.00001
NM_018238.4(AGK):c.*1067T>G rs1797627785 0.00001
NM_018238.4(AGK):c.*125C>T rs1211083355 0.00001
NM_018238.4(AGK):c.*265G>A rs886062022 0.00001
NM_018238.4(AGK):c.*662A>G rs760797830 0.00001
NM_018238.4(AGK):c.*97G>T rs1474393370 0.00001
NM_018238.4(AGK):c.297+3A>G rs972525482 0.00001
NM_018238.4(AGK):c.511A>G (p.Lys171Glu) rs771035261 0.00001
NM_018238.4(AGK):c.619A>G (p.Thr207Ala) rs561898521 0.00001
NM_018238.4(AGK):c.637T>C (p.Ser213Pro) rs886062019 0.00001
NM_018238.4(AGK):c.863C>T (p.Ala288Val) rs763068104 0.00001
NM_018238.3(AGK):c.-139G>A rs886062017
NM_018238.4(AGK):c.*1006T>C rs1387554008
NM_018238.4(AGK):c.*1233_*1236del rs886062028
NM_018238.4(AGK):c.*1308_*1311del rs886062029
NM_018238.4(AGK):c.*1331_*1334del rs886062030
NM_018238.4(AGK):c.*231C>T rs1797606303
NM_018238.4(AGK):c.*354CTT[1] rs886062023
NM_018238.4(AGK):c.*364C>G rs368718308
NM_018238.4(AGK):c.*365G>A rs886062024
NM_018238.4(AGK):c.*754G>A rs1797619409
NM_018238.4(AGK):c.*82_*83del rs886062021
NM_018238.4(AGK):c.*967T>C rs886062026
NM_018238.4(AGK):c.1098C>T (p.Leu366=) rs369042931
NM_018238.4(AGK):c.217A>G (p.Lys73Glu) rs1796233762
NM_018238.4(AGK):c.355A>G (p.Ile119Val) rs180770509
NM_018238.4(AGK):c.763A>G (p.Thr255Ala) rs886062020
NM_018238.4(AGK):c.963G>A (p.Gln321=) rs746403177
NM_018238.4(AGK):c.976-9C>T rs746375297

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