ClinVar Miner

List of variants in gene MYO5B reported as benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001080467.3(MYO5B):c.376A>G (p.Thr126Ala) rs1815930 0.97586
NM_001080467.3(MYO5B):c.2049G>A (p.Val683=) rs2298628 0.48893
NM_001080467.3(MYO5B):c.1545+11T>C rs17715416 0.33063
NM_001080467.3(MYO5B):c.3163_3165dup (p.Leu1055dup) rs397841722 0.31640
NM_001080467.3(MYO5B):c.3591C>T (p.Tyr1197=) rs3826579 0.23556
NM_001080467.3(MYO5B):c.3276+11T>C rs2276176 0.22610
NM_001080467.3(MYO5B):c.3962G>A (p.Gly1321Glu) rs1942418 0.07389
NM_001080467.3(MYO5B):c.921G>T (p.Lys307Asn) rs17659179 0.04692
NM_001080467.3(MYO5B):c.3396+9T>C rs75971548 0.03854
NM_001080467.3(MYO5B):c.2004-13del rs56278513
NM_001080467.3(MYO5B):c.2004-14_2004-13del rs56278513

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