ClinVar Miner

List of variants studied for arrhythmogenic right ventricular dysplasia 11 by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963 0.18480
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874 0.10312
NM_024422.6(DSC2):c.32A>G (p.Asn11Ser) rs868333 0.08191
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_024422.6(DSC2):c.1264-5C>T rs183614856 0.00292
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_024422.6(DSC2):c.1901G>A (p.Arg634His) rs200475862 0.00052
NM_024422.6(DSC2):c.1521-7C>T rs374810953 0.00015
NM_024422.6(DSC2):c.870A>G (p.Pro290=) rs142653119 0.00003
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser) rs200802591 0.00002
NM_024422.6(DSC2):c.943-1G>A rs796756333 0.00002
NM_024422.6(DSC2):c.2104T>C (p.Leu702=) rs753742489 0.00001
NM_024422.6(DSC2):c.2328C>G (p.Ile776Met) rs1789054 0.00001
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.1371A>G (p.Thr457=) rs1555638728
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.942+13_942+15dup rs5823783

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