ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota and "uncertain significance" from any submitter

Minimum review status of the submission from Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota: Collection method of the submission from Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 22
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HGVS dbSNP gnomAD frequency
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619 0.00003
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215 0.00001
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513 0.00001
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174 0.00001
NM_000271.5(NPC1):c.743G>T (p.Gly248Val) rs1230538609 0.00001
NM_001008216.2(GALE):c.449C>T (p.Thr150Met) rs765353795 0.00001
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947 0.00001
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro) rs2148399015
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val) rs2091709505
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) rs1567635573
NM_000478.6(ALPL):c.318G>C (p.Gln106His) rs1553412268
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala) rs45484892
NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro) rs1567458244
NM_000642.3(AGL):c.4259+5G>A rs780504025
NM_018486.3(HDAC8):c.667C>T (p.Arg223Trp) rs1556007534

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