ClinVar Miner

List of variants studied for arrhythmogenic right ventricular dysplasia 9 by Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_000257.4(MYH7):c.3715A>G (p.Ile1239Val) rs1114167342
NM_001035.3(RYR2):c.4069G>A (p.Asp1357Asn) rs193922626
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys) rs72646839
NM_001267550.2(TTN):c.68827G>T (p.Ala22943Ser) rs878941853
NM_001927.4(DES):c.1315G>A (p.Glu439Lys) rs1114167347
NM_002471.3(MYH6):c.3607dup (p.Ala1203fs) rs1114167343
NM_002667.5(PLN):c.37_39AGA[1] (p.Arg14del) rs397516784
NM_004572.3(PKP2):c.1138G>A (p.Glu380Lys) rs878898365
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_004572.3(PKP2):c.2326T>C (p.Ser776Pro) rs1114167346
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) rs397517270
NM_024422.6(DSC2):c.2581G>A (p.Gly861Arg) rs1114167344
NM_144573.3(NEXN):c.1401_1403AGA[2] (p.Glu470del) rs397517846
NM_170707.4(LMNA):c.1073A>G (p.Glu358Gly) rs1114167345

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.