ClinVar Miner

List of variants studied for Acrokeratosis verruciformis of Hopf; Keratosis follicularis

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_170665.4(ATP2A2):c.-10C>G rs201929640 0.00695
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=) rs55984131 0.00693
NM_170665.4(ATP2A2):c.1096-16C>T rs56253731 0.00688
NM_170665.4(ATP2A2):c.2058C>T (p.Ile686=) rs140766323 0.00019
NM_170665.4(ATP2A2):c.2030G>C (p.Arg677Pro) rs1879294675
NM_170665.4(ATP2A2):c.2168C>T (p.Thr723Ile)

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