ClinVar Miner

Variants in gene ACTA1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20670
NM_001100.4(ACTA1):c.996C>A (p.Ile332=) rs74897770 0.01920
NM_001100.4(ACTA1):c.129+31C>A rs144658220 0.01631
NM_001100.4(ACTA1):c.453C>A (p.Thr151=) rs76030344 0.00904
NM_001100.4(ACTA1):c.617-5C>T rs199804338 0.00399
NM_001100.4(ACTA1):c.549G>A (p.Ala183=) rs200094415 0.00027
NM_001100.4(ACTA1):c.809-18dup rs398123565

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