ClinVar Miner

List of variants studied for dilated cardiomyopathy 1DD by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.3452-9= rs7070640 0.96872
NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) rs942077 0.74386
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490 0.02441
NM_001134363.3(RBM20):c.1801-11G>C rs12572941 0.02426
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268 0.02395
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380 0.01586
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_001134363.3(RBM20):c.1275+13A>G rs373230569 0.00392
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898 0.00107
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=) rs375626512 0.00046
NM_001134363.3(RBM20):c.1275+8G>T rs727505318 0.00011
NM_001134363.3(RBM20):c.3504G>A (p.Leu1168=) rs377742289 0.00009
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln) rs375798246 0.00008
NM_001134363.3(RBM20):c.3316+9C>T rs796080099 0.00001
NM_001134363.3(RBM20):c.3378G>A (p.Val1126=) rs796430041 0.00001
NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys) rs535839168 0.00001
NM_001134363.3(RBM20):c.1101G>T (p.Arg367=) rs796631295
NM_001134363.3(RBM20):c.1430-20_1430-19del rs749067157
NM_001134363.3(RBM20):c.150A>C (p.Pro50=) rs376936285
NM_001134363.3(RBM20):c.2196C>T (p.Pro732=) rs1554842740
NM_001134363.3(RBM20):c.2303= (p.Ser768=) rs1417635
NM_001134363.3(RBM20):c.2761A>T (p.Ile921Phe) rs397516608

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