ClinVar Miner

List of variants studied for Dilated cardiomyopathy 1P by Illumina Laboratory Services, Illumina

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001042475.3(CEP85L):c.1020+6052A>C rs12198461 0.47403
NM_001042475.3(CEP85L):c.1020+17189C>T rs9489434 0.01645
NM_001042475.3(CEP85L):c.1020+6360T>C rs28763979 0.01430
NM_001042475.3(CEP85L):c.1020+5170C>T rs537800022 0.00231
NM_001042475.3(CEP85L):c.1020+5206G>A rs146145000 0.00195
NM_001042475.3(CEP85L):c.1020+17159G>A rs150080760 0.00167
NM_001042475.3(CEP85L):c.1020+6663G>A rs189611501 0.00073
NM_002667.5(PLN):c.27C>T (p.Arg9=) rs145623013 0.00051
NM_001042475.3(CEP85L):c.1020+6199A>G rs79199092 0.00038
NM_001042475.3(CEP85L):c.1020+6034A>G rs117280667 0.00032
NM_001042475.3(CEP85L):c.1020+5442A>T rs528466147 0.00011
NM_001042475.3(CEP85L):c.1020+5351A>G rs185945888 0.00008
NM_001042475.3(CEP85L):c.1020+6369A>G rs565692601 0.00007
NM_001042475.3(CEP85L):c.1020+5269T>C rs540046916 0.00006
NM_001042475.3(CEP85L):c.1020+5127G>A rs904745767 0.00004
NM_001042475.3(CEP85L):c.1020+5250A>G rs893609535 0.00004
NM_001042475.3(CEP85L):c.1020+5558G>A rs886061004 0.00004
NM_001042475.3(CEP85L):c.1020+6172T>C rs768837853 0.00004
NM_001042475.3(CEP85L):c.1020+6297C>T rs1200877355 0.00004
NM_001042475.3(CEP85L):c.1020+6709A>G rs751500735 0.00004
NM_001042475.3(CEP85L):c.1020+5224G>A rs886061007 0.00003
NM_001042475.3(CEP85L):c.1020+5314G>A rs886061005 0.00003
NM_001042475.3(CEP85L):c.1020+5437T>A rs183097878 0.00003
NM_001042475.3(CEP85L):c.1020+5868G>A rs886061001 0.00002
NM_001042475.3(CEP85L):c.1020+5277A>G rs886061006 0.00001
NM_001042475.3(CEP85L):c.1020+5379A>T rs562026339 0.00001
NM_001042475.3(CEP85L):c.1020+5572A>G rs886061003 0.00001
NM_001042475.3(CEP85L):c.1020+5546C>T rs1779128355
NM_001042475.3(CEP85L):c.1020+6359C>T rs886060998
NM_002667.5(PLN):c.90T>C (p.Asn30=) rs868301643

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