ClinVar Miner

List of variants in gene ANK2 reported as uncertain significance by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.2110C>G (p.Gln704Glu) rs139197937 0.00014
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn) rs199549660 0.00013
NM_001148.6(ANK2):c.4220A>G (p.Lys1407Arg) rs200648573 0.00010
NM_001148.6(ANK2):c.9916G>A (p.Val3306Ile) rs200922244 0.00006
NM_001148.6(ANK2):c.2234A>G (p.Asn745Ser) rs786205263 0.00002
NM_001148.6(ANK2):c.11848G>A (p.Glu3950Lys) rs746413508 0.00001
NM_001148.6(ANK2):c.5134C>A (p.Gln1712Lys) rs201219746 0.00001
NM_001148.6(ANK2):c.8447G>A (p.Gly2816Asp) rs199538455 0.00001
NM_001148.6(ANK2):c.*142GGA[1] rs786205419
NM_001148.6(ANK2):c.11683G>C (p.Val3895Leu) rs72556370
NM_001148.6(ANK2):c.2474C>T (p.Thr825Ile) rs786205420
NM_001148.6(ANK2):c.2902T>G (p.Phe968Val) rs786205421
NM_001148.6(ANK2):c.4408G>A (p.Asp1470Asn) rs564648496
NM_001148.6(ANK2):c.6533T>A (p.Phe2178Tyr) rs200115726
NM_001148.6(ANK2):c.8381A>G (p.Gln2794Arg) rs528909081

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