ClinVar Miner

List of variants reported as uncertain significance for arrhythmogenic right ventricular cardiomyopathy by Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_017636.4(TRPM4):c.1139C>T (p.Ala380Val) rs150894548 0.00011
NM_000432.4(MYL2):c.433G>A (p.Asp145Asn) rs199567559 0.00005
NM_000219.6(KCNE1):c.127G>A (p.Glu43Lys) rs755781709 0.00004
NM_001134363.3(RBM20):c.2371C>T (p.Arg791Trp) rs529403382 0.00004
NM_000257.4(MYH7):c.2599G>A (p.Glu867Lys) rs558673680 0.00003
NM_001267550.2(TTN):c.78508G>A (p.Gly26170Ser) rs781248790 0.00002
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His) rs373514686 0.00001
NM_201596.3(CACNB2):c.503G>A (p.Cys168Tyr) rs773215003 0.00001
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del) rs727502987
NM_002471.4(MYH6):c.2957G>A (p.Gly986Glu) rs1369680809
NM_004006.3(DMD):c.891G>T (p.Lys297Asn) rs1569467457

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