ClinVar Miner

List of variants studied for Keratosis follicularis by Mendelics

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Total variants: 3
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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.464-70C>A rs183641769 0.00468

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