ClinVar Miner

Variants with conflicting interpretations "benign" from Northcott Neuroscience Laboratory, ANZAC Research Institute and "likely benign" from any submitter

Minimum review status of the submission from Northcott Neuroscience Laboratory, ANZAC Research Institute: Collection method of the submission from Northcott Neuroscience Laboratory, ANZAC Research Institute:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496 0.00287
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_001005373.4(LRSAM1):c.1046A>G (p.Gln349Arg) rs200595164 0.00011

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