ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu) rs113342704 0.00073
NM_138691.3(TMC1):c.141T>A (p.Asp47Glu) rs140388347 0.00061
NM_138691.3(TMC1):c.703G>T (p.Ala235Ser) rs200831684 0.00021
NM_138691.3(TMC1):c.2070G>A (p.Ala690=) rs145757452 0.00017
NM_138691.3(TMC1):c.885-11T>C rs768694342 0.00005
NM_138691.3(TMC1):c.1567-14T>G rs727503485 0.00004
NM_138691.3(TMC1):c.627C>T (p.Leu209=) rs748580616 0.00003
NM_138691.3(TMC1):c.936T>G (p.Asn312Lys) rs148443938 0.00003
NM_138691.3(TMC1):c.1070A>G (p.Asn357Ser) rs397517834 0.00002
NM_138691.3(TMC1):c.1233G>A (p.Met411Ile) rs184603559 0.00001

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