ClinVar Miner

List of variants in gene ACTA1 reported as benign by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001100.4(ACTA1):c.130-5T>C rs11803533 0.26938
NM_001100.4(ACTA1):c.809-35del rs59228224 0.20823
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.809-13dup rs201427429
NM_001100.4(ACTA1):c.809-14G>C rs6673359
NM_001100.4(ACTA1):c.809-18dup rs398123565

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