ClinVar Miner

List of variants in gene ANK2 studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.8144C>T (p.Ser2715Phe) rs147619875 0.00011
NM_001148.6(ANK2):c.10805G>A (p.Arg3602Gln) rs374991526 0.00010
NM_001148.6(ANK2):c.3979A>G (p.Met1327Val) rs778074732 0.00001
NM_001148.6(ANK2):c.37G>T (p.Gly13Ter)
NM_001148.6(ANK2):c.49A>G (p.Asn17Asp)

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