ClinVar Miner

List of variants studied for cardiac arrhythmia, ankyrin-B-related by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.11673T>C (p.His3891=) rs2293324 0.30277
NM_001148.6(ANK2):c.7110A>G (p.Gln2370=) rs3733615 0.27889
NM_001148.6(ANK2):c.9648A>G (p.Glu3216=) rs10013743 0.12780
NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala) rs28377576 0.12654
NM_001148.6(ANK2):c.10888+20C>T rs35728190 0.10852
NM_001148.6(ANK2):c.5469C>T (p.Pro1823=) rs33966911 0.07670
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207 0.00090

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