ClinVar Miner

List of variants in gene ANK2 reported as likely benign by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 16
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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.10861C>G (p.Leu3621Val) rs45570339 0.00327
NM_001148.6(ANK2):c.6648C>G (p.Gly2216=) rs140926982 0.00208
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.9046G>A (p.Glu3016Lys) rs149963885 0.00052
NM_001148.6(ANK2):c.231G>A (p.Val77=) rs149699185 0.00049
NM_001148.6(ANK2):c.2727T>A (p.Thr909=) rs144548535 0.00036
NM_001148.6(ANK2):c.6633C>T (p.Ala2211=) rs143516811 0.00018
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr) rs138928206 0.00018
NM_001148.6(ANK2):c.8903T>C (p.Val2968Ala) rs751095004 0.00012
NM_001148.6(ANK2):c.4287A>G (p.Ser1429=) rs72556369 0.00011
NM_001148.6(ANK2):c.417A>G (p.Gln139=) rs145234030 0.00004

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