ClinVar Miner

List of variants reported as likely pathogenic for Keratosis follicularis

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_170665.4(ATP2A2):c.1010del (p.Pro337fs)
NM_170665.4(ATP2A2):c.220-1G>A
NM_170665.4(ATP2A2):c.2300A>G (p.Asn767Ser)	rs121912732
NM_170665.4(ATP2A2):c.2381T>A (p.Val794Asp)	rs1592864859

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