ClinVar Miner

List of variants reported as benign for cardiomyopathy by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.13564-41A>G rs114289907 0.03849
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574 0.00270
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085

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