ClinVar Miner

List of variants in gene DES reported as benign for Dilated cardiomyopathy 1I

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001927.4(DES):c.75A>G (p.Pro25=) rs1318299 0.89847
NM_001927.4(DES):c.93T>C (p.Ser31=) rs2017800 0.88201
NM_001927.4(DES):c.579-38C>T rs12991025 0.50005
NM_001927.4(DES):c.1014G>C (p.Leu338=) rs12920 0.37027
NM_001927.4(DES):c.828C>T (p.Asp276=) rs1058261 0.36262
NM_001927.4(DES):c.1104G>A (p.Ala368=) rs1058284 0.36237
NM_001927.4(DES):c.578+11G>A rs111548596 0.05724

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