ClinVar Miner

Variants in gene MYO6 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_004999.4(MYO6):c.1159C>T (p.Arg387Ter) rs766700803 0.00001
NM_004999.4(MYO6):c.1983+1G>A rs2149321922
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_004999.4(MYO6):c.737A>G (p.His246Arg) rs121912560

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