ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill and "benign" from any submitter

Minimum review status of the submission from UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill: Collection method of the submission from UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_004998.4(MYO1E):c.1593C>G (p.Ile531Met) rs140447165 0.00815
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys) rs144018942 0.00080
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131 0.00067
NM_001277115.2(DNAH11):c.8093T>C (p.Leu2698Ser) rs187533108 0.00053
NM_001277115.2(DNAH11):c.11884G>A (p.Val3962Met) rs199719583 0.00037
NM_001277115.2(DNAH11):c.9907A>G (p.Ile3303Val) rs376875223 0.00024
NM_001277115.2(DNAH11):c.12796T>A (p.Phe4266Ile) rs186358036 0.00011
NM_001277115.2(DNAH11):c.6118C>T (p.Arg2040Cys) rs199772877 0.00011
NM_001277115.2(DNAH11):c.11678C>T (p.Thr3893Met) rs763843747 0.00010
NM_001277115.2(DNAH11):c.3173C>A (p.Ala1058Asp) rs756753955 0.00001
NM_003482.4(KMT2D):c.6314G>A (p.Arg2105His) rs772506992 0.00001
NM_001277115.2(DNAH11):c.13184G>A (p.Arg4395Gln) rs368249392

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