List of variants reported as pathogenic for Keratosis follicularis

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_170665.4(ATP2A2):c.1006_1010delinsTTCCAAGG (p.Leu336_Pro337delinsPheGlnGly)
NM_170665.4(ATP2A2):c.1013C>T (p.Ser338Phe)
NM_170665.4(ATP2A2):c.137-13_137-12insNNNNNNNNNNNNNNNNNN	rs2137673961
NM_170665.4(ATP2A2):c.1678T>C (p.Cys560Arg)	rs121912734
NM_170665.4(ATP2A2):c.2258ACA[2] (p.Asn755del)	rs1566240208
NM_170665.4(ATP2A2):c.322C>T (p.Gln108Ter)	rs121912731
NM_170665.4(ATP2A2):c.392G>A (p.Arg131Gln)	rs121912738
NM_170665.4(ATP2A2):c.544+1G>A	rs1592839705
NM_170665.4(ATP2A2):c.68G>A (p.Gly23Glu)	rs28929478

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