ClinVar Miner

List of variants reported as likely benign for cardiomyopathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.5586+9G>A rs200025478 0.00044
NM_024422.6(DSC2):c.631-13dup rs551337657 0.00026
NM_182914.3(SYNE2):c.9501G>T (p.Gln3167His) rs1026697162 0.00001
NM_001005242.3(PKP2):c.2168-11dup rs746936605
NM_001005242.3(PKP2):c.502T>C (p.Tyr168His) rs1956954455

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