ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Johns Hopkins Genomics, Johns Hopkins University and "benign" from any submitter

Minimum review status of the submission from Johns Hopkins Genomics, Johns Hopkins University: Collection method of the submission from Johns Hopkins Genomics, Johns Hopkins University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val) rs145251229 0.00026
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_001317778.2(SFTPC):c.157G>A (p.Ala53Thr) rs200039720 0.00011
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu) rs772379819 0.00003
NM_000548.5(TSC2):c.3542C>T (p.Thr1181Met) rs373481458 0.00003
NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys) rs777789161 0.00001
NM_000548.5(TSC2):c.4039C>G (p.Leu1347Val) rs377050648 0.00001
NM_001134363.3(RBM20):c.2149C>A (p.Gln717Lys) rs551819918 0.00001
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val) rs764725850
NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) rs2066845

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