ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Illumina Laboratory Services, Illumina and "likely benign" from any submitter

Minimum review status of the submission from Illumina Laboratory Services, Illumina: Collection method of the submission from Illumina Laboratory Services, Illumina:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000261.2(MYOC):c.1334C>T (p.Ala445Val) rs140967767 0.00035
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr) rs74315447 0.00024
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
Single allele

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