ClinVar Miner

List of variants reported as pathogenic for catecholaminergic polymorphic ventricular tachycardia 5 by OMIM

Included ClinVar conditions (2):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter) rs397515458 0.00006
NM_006073.4(TRDN):c.22+29A>G rs774068079 0.00003
NM_006073.4(TRDN):c.167T>C (p.Leu56Pro) rs1060502116
NM_006073.4(TRDN):c.176C>G (p.Thr59Arg) rs397515459
NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer) rs752256846
NM_006073.4(TRDN):c.502G>T (p.Glu168Ter) rs545032318
NM_006073.4(TRDN):c.53_56del (p.Asp18fs) rs768049331

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