ClinVar Miner

Variants with conflicting interpretations "benign" from Genome-Nilou Lab and "uncertain significance" from Natera, Inc.

Minimum review status of the submission from Genome-Nilou Lab: Collection method of the submission from Genome-Nilou Lab:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509 0.00245
NM_000359.3(TGM1):c.383A>G (p.Glu128Gly) rs138592626 0.00046
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=) rs145775351 0.00028
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg) rs112739451 0.00014
NM_000243.3(MEFV):c.1758T>C (p.Asn586=) rs202228332 0.00003
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys) rs104895101 0.00001
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met) rs104895102 0.00001
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr) rs104895154 0.00001
NM_206933.4(USH2A):c.1047T>C (p.Asp349=) rs775053681 0.00001
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu) rs11466024

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