ClinVar Miner

List of variants in gene CASQ2 reported as benign by Ambry Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala) rs4074536 0.34486
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001232.4(CASQ2):c.226G>A (p.Val76Met) rs10801999 0.01289
NM_001232.4(CASQ2):c.196_198delinsGCA (p.Thr66Ala)

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