ClinVar Miner

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

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro) rs138527651 0.00002
NM_138691.3(TMC1):c.582G>A (p.Trp194Ter) rs1172357346 0.00001
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.3(TMC1):c.332G>A (p.Trp111Ter) rs1345926328
NM_138691.3(TMC1):c.741+1G>A rs1588067173

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