ClinVar Miner

List of variants reported as uncertain significance for Dilated cardiomyopathy 1DD by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser) rs730880182 0.00015
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys) rs777768807 0.00009
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr) rs373797219 0.00007
NM_001134363.3(RBM20):c.710G>T (p.Gly237Val) rs761557813 0.00002
NM_001134363.3(RBM20):c.404A>G (p.Asn135Ser) rs1460527562 0.00001
NM_001134363.3(RBM20):c.1639A>G (p.Asn547Asp) rs2493444954
NM_001134363.3(RBM20):c.1969_1970delinsAT (p.Ser657Ile) rs1554842673

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