ClinVar Miner

List of variants reported as likely benign for cardiac arrhythmia, ankyrin-B-related by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg) rs34270799 0.01986
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417 0.00822
NM_001148.6(ANK2):c.2377-8C>T rs139893914 0.00682
NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys) rs141191319 0.00222
NM_001148.6(ANK2):c.2277+9C>T rs141965666 0.00205
NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu) rs145895389 0.00170
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207 0.00090
NM_001148.6(ANK2):c.6206G>A (p.Arg2069His) rs149645600 0.00065
NM_001148.6(ANK2):c.6176C>T (p.Thr2059Met) rs200765866 0.00058
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr) rs138928206 0.00018

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