ClinVar Miner

List of variants reported as uncertain significance for Keratosis follicularis

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_170665.4(ATP2A2):c.*4495_*4496del rs56170666 0.00331
NM_170665.4(ATP2A2):c.-335C>A rs886048945 0.00178
NM_170665.4(ATP2A2):c.-324G>A rs543056549 0.00159
NM_170665.4(ATP2A2):c.-311G>T rs886048946 0.00091
NM_170665.4(ATP2A2):c.*4599G>A rs533684938 0.00073
NM_170665.4(ATP2A2):c.-458G>A rs978156826 0.00057
NM_170665.4(ATP2A2):c.94C>T (p.Leu32Phe) rs141335001 0.00048
NM_170665.4(ATP2A2):c.-206C>T rs541230019 0.00037
NM_170665.4(ATP2A2):c.*4140C>T rs774350013 0.00033
NM_170665.4(ATP2A2):c.*3983A>C rs749127178 0.00019
NM_170665.4(ATP2A2):c.*4463A>G rs775478812 0.00016
NM_170665.4(ATP2A2):c.-512C>G rs935214564 0.00011
NM_170665.4(ATP2A2):c.1924G>A (p.Gly642Arg) rs373030579 0.00011
NM_170665.4(ATP2A2):c.2797G>A (p.Val933Met) rs372102705 0.00008
NM_170665.4(ATP2A2):c.*3891G>A rs1027856545 0.00004
NM_170665.4(ATP2A2):c.2056A>G (p.Ile686Val) rs147575100 0.00004
NM_170665.4(ATP2A2):c.*3880C>T rs777680341 0.00003
NM_170665.4(ATP2A2):c.-34G>A rs1031056434 0.00002
NM_170665.4(ATP2A2):c.2824C>T (p.Leu942Phe) rs1040049598 0.00002
NM_170665.4(ATP2A2):c.*3881G>A rs1157386071 0.00001
NM_170665.4(ATP2A2):c.*4256G>A rs1170611628 0.00001
NM_170665.4(ATP2A2):c.-543A>G rs964246816 0.00001
NM_170665.4(ATP2A2):c.1878C>T (p.Asp626=) rs375770050 0.00001
NM_170665.4(ATP2A2):c.2859+11G>A rs914920127 0.00001
NM_170665.4(ATP2A2):c.506A>G (p.Lys169Arg) rs200712146 0.00001
NM_170665.4(ATP2A2):c.*3918G>T rs886048954
NM_170665.4(ATP2A2):c.*4283G>A rs930542628
NM_170665.4(ATP2A2):c.*4572A>G rs1880345914
NM_170665.4(ATP2A2):c.*4608TCTAT[1] rs543602946
NM_170665.4(ATP2A2):c.-165C>G rs989413455
NM_170665.4(ATP2A2):c.-167C>T rs886048947
NM_170665.4(ATP2A2):c.-37G>C rs1194323522
NM_170665.4(ATP2A2):c.-391C>T rs960385666
NM_170665.4(ATP2A2):c.-469G>C rs1592781428
NM_170665.4(ATP2A2):c.-476C>T rs886048944
NM_170665.4(ATP2A2):c.-482C>T rs886048943
NM_170665.4(ATP2A2):c.-75C>T rs886048948
NM_170665.4(ATP2A2):c.1185-9T>C rs1878516127
NM_170665.4(ATP2A2):c.1473A>G (p.Arg491=) rs748934047
NM_170665.4(ATP2A2):c.1804C>G (p.Pro602Ala) rs1879266169
NM_170665.4(ATP2A2):c.2185G>A (p.Ala729Thr) rs886048953
NM_170665.4(ATP2A2):c.219+15del rs750221249
NM_170665.4(ATP2A2):c.2521+4A>C rs191745868
NM_170665.4(ATP2A2):c.2607+3A>T
NM_170665.4(ATP2A2):c.303T>C (p.Asn101=) rs886048950
NM_170665.4(ATP2A2):c.544+10A>G rs886048951
NM_170665.4(ATP2A2):c.545-14C>T rs1566228584
NM_170665.4(ATP2A2):c.555C>G (p.Val185=) rs886048952
NM_170665.4(ATP2A2):c.583C>G (p.Pro195Ala) rs1877810444

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