ClinVar Miner

List of variants reported as uncertain significance for familial isolated arrhythmogenic right ventricular dysplasia by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_001035.3(RYR2):c.1144G>A (p.Val382Met) rs370057029 0.00007
NM_004415.4(DSP):c.5063C>T (p.Ala1688Val) rs372288373 0.00005
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_001005242.3(PKP2):c.1760A>G (p.Tyr587Cys) rs1060501183 0.00001
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile) rs772744115 0.00001
NM_001035.3(RYR2):c.10024G>C (p.Ala3342Pro) rs779445295
NM_001035.3(RYR2):c.4912T>A (p.Ser1638Thr) rs794728739
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) rs587780487

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