ClinVar Miner

Variants in gene ACTG1 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: 6
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HGVS dbSNP gnomAD frequency
NM_001614.5(ACTG1):c.228C>T (p.Val76=) rs143028649 0.00055
NM_001614.5(ACTG1):c.803-3T>C rs369438865 0.00019
NM_001614.5(ACTG1):c.825C>T (p.His275=) rs145303691 0.00017
NM_001614.5(ACTG1):c.124-9C>T rs376850595 0.00006
NM_001614.5(ACTG1):c.123+8G>A rs536476533 0.00001
NM_001614.5(ACTG1):c.985-5dup rs782289893

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