ClinVar Miner

List of variants studied for cardiac conduction defect by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859 0.00004
NC_012920.1(MT-TT):m.15923A>G rs1556424691
NM_004415.4(DSP):c.2528C>A (p.Ser843Ter) rs1057518920

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