ClinVar Miner

List of variants studied for Restrictive cardiomyopathy; Cardiomyopathy by Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro) rs34417028 0.00652
NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile) rs34065672 0.00608
NM_017636.4(TRPM4):c.2283_2294del (p.759_762CGGR[1]) rs113100797
NM_145046.5(CALR3):c.772_777delinsGCCAGG (p.Lys258_Pro259delinsAlaArg) rs1599717620

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