ClinVar Miner

Variants in gene TMC1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_138691.3(TMC1):c.*106G>C rs79830675 0.01140
NM_138691.3(TMC1):c.2260+3_2260+5del rs546307383 0.00308
NM_138691.3(TMC1):c.1566+8C>T rs202184917 0.00059
NM_138691.3(TMC1):c.696C>T (p.Ala232=) rs112843964 0.00047
NM_138691.3(TMC1):c.822G>A (p.Pro274=) rs370523728 0.00016
NM_138691.3(TMC1):c.795A>C (p.Thr265=) rs140398130 0.00013
NM_138691.3(TMC1):c.760G>A (p.Val254Ile) rs111033497 0.00009
NM_138691.3(TMC1):c.2129+15T>A rs747921456 0.00008
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) rs376040866

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