ClinVar Miner

Variants in gene MYH3 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: 9
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HGVS dbSNP gnomAD frequency
NM_002470.4(MYH3):c.-9+1G>A rs557849165 0.00117
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys) rs121913621
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_002470.4(MYH3):c.2776_2779del (p.Arg926fs) rs766768674
NM_002470.4(MYH3):c.4522C>T (p.Gln1508Ter) rs779530750
NM_002470.4(MYH3):c.4525G>T (p.Glu1509Ter)
NM_002470.4(MYH3):c.4726_4729del (p.Lys1576fs)
NM_002470.4(MYH3):c.859T>G (p.Phe287Val) rs1567560080
NM_002470.4(MYH3):c.998C>G (p.Thr333Arg) rs1567559562

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