ClinVar Miner

List of variants in gene CASQ2 reported as likely benign for Cardiomyopathy

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_001232.4(CASQ2):c.540G>A (p.Lys180=) rs72554057 0.00011
NM_001232.4(CASQ2):c.912G>A (p.Leu304=) rs146074006 0.00001
NM_001232.4(CASQ2):c.240G>A (p.Val80=) rs2101101070
NM_001232.4(CASQ2):c.423A>G (p.Leu141=) rs770571012
NM_001232.4(CASQ2):c.738-8_738-5del rs56889721

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