ClinVar Miner

List of variants reported as uncertain significance for arrhythmogenic right ventricular cardiomyopathy by MGZ Medical Genetics Center

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His) rs371157286 0.00008
NM_001035.3(RYR2):c.5761C>T (p.Arg1921Trp) rs760010432 0.00003
NM_001035.3(RYR2):c.6772C>T (p.Arg2258Cys) rs757350594 0.00003
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys) rs769787593 0.00003
NM_001035.3(RYR2):c.13976A>G (p.Glu4659Gly) rs749030677 0.00001
NM_001035.3(RYR2):c.14014A>T (p.Met4672Leu)
NM_001035.3(RYR2):c.1818A>C (p.Arg606Ser)
NM_001035.3(RYR2):c.1853G>T (p.Cys618Phe)
NM_001035.3(RYR2):c.5962T>C (p.Cys1988Arg)
NM_001035.3(RYR2):c.8960G>A (p.Ser2987Asn)
NM_002230.4(JUP):c.275G>A (p.Gly92Asp) rs782737074
NM_002230.4(JUP):c.311C>G (p.Thr104Ser)
NM_004415.4(DSP):c.1100G>A (p.Cys367Tyr)

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