ClinVar Miner

List of variants studied for Keratosis follicularis

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Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_170665.4(ATP2A2):c.-403C>G rs3026433 0.15991
NM_170665.4(ATP2A2):c.2172G>A (p.Ala724=) rs56243033 0.04683
NM_170665.4(ATP2A2):c.1420-8C>G rs112499287 0.02475
NM_170665.4(ATP2A2):c.220-18G>A rs35235621 0.01583
NM_170665.4(ATP2A2):c.81A>G (p.Glu27=) rs3026434 0.01033
NM_170665.4(ATP2A2):c.-500T>C rs550888717 0.00816
NM_170665.4(ATP2A2):c.*4580C>T rs9540 0.00774
NM_170665.4(ATP2A2):c.*4047A>G rs75547854 0.00700
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.2628A>G (p.Lys876=) rs149324360 0.00647
NM_170665.4(ATP2A2):c.-240G>A rs577127824 0.00568
NM_170665.4(ATP2A2):c.464-70C>A rs183641769 0.00468
NM_170665.4(ATP2A2):c.*4203A>G rs114474435 0.00354
NM_170665.4(ATP2A2):c.*4495_*4496del rs56170666 0.00331
NM_170665.4(ATP2A2):c.1323A>G (p.Thr441=) rs148550709 0.00183
NM_170665.4(ATP2A2):c.-324G>A rs543056549 0.00152
NM_170665.4(ATP2A2):c.2945C>T (p.Thr982Met) rs149024535 0.00144
NM_170665.4(ATP2A2):c.1167T>C (p.Tyr389=) rs115016152 0.00137
NM_170665.4(ATP2A2):c.*4428C>T rs55825821 0.00135
NM_170665.4(ATP2A2):c.-311G>T rs886048946 0.00088
NM_170665.4(ATP2A2):c.-274G>C rs558822961 0.00081
NM_170665.4(ATP2A2):c.-335C>A rs886048945 0.00076
NM_170665.4(ATP2A2):c.*4599G>A rs533684938 0.00069
NM_170665.4(ATP2A2):c.2202G>A (p.Leu734=) rs12312588 0.00064
NM_170665.4(ATP2A2):c.2319-12G>A rs369489819 0.00055
NM_170665.4(ATP2A2):c.-458G>A rs978156826 0.00054
NM_170665.4(ATP2A2):c.94C>T (p.Leu32Phe) rs141335001 0.00048
NM_170665.4(ATP2A2):c.1096-12C>G rs138711897 0.00046
NM_170665.4(ATP2A2):c.545-7C>T rs369585470 0.00038
NM_170665.4(ATP2A2):c.-206C>T rs541230019 0.00037
NM_170665.4(ATP2A2):c.-15C>T rs373966549 0.00036
NM_170665.4(ATP2A2):c.*4140C>T rs774350013 0.00034
NM_170665.4(ATP2A2):c.2318+3A>G rs201126870 0.00027
NM_170665.4(ATP2A2):c.*3983A>C rs749127178 0.00022
NM_170665.4(ATP2A2):c.137-12T>C rs376032579 0.00022
NM_170665.4(ATP2A2):c.1569G>A (p.Arg523=) rs558277715 0.00022
NM_170665.4(ATP2A2):c.*4463A>G rs775478812 0.00021
NM_170665.4(ATP2A2):c.2058C>T (p.Ile686=) rs140766323 0.00019
NM_170665.4(ATP2A2):c.1287+3A>G rs376753206 0.00017
NM_170665.4(ATP2A2):c.*4578G>A rs143926209 0.00013
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.*3875G>A rs772831610 0.00010
NM_170665.4(ATP2A2):c.1983C>T (p.Asn661=) rs755494363 0.00010
NM_170665.4(ATP2A2):c.1627A>G (p.Lys543Glu) rs766125552 0.00009
NM_170665.4(ATP2A2):c.1758T>C (p.Tyr586=) rs145018250 0.00009
NM_170665.4(ATP2A2):c.2797G>A (p.Val933Met) rs372102705 0.00008
NM_170665.4(ATP2A2):c.2295G>A (p.Ser765=) rs375096367 0.00007
NM_170665.4(ATP2A2):c.2556A>C (p.Ala852=) rs201414100 0.00006
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.*3823A>C rs193112984 0.00003
NM_170665.4(ATP2A2):c.*3880C>T rs777680341 0.00003
NM_170665.4(ATP2A2):c.1122T>C (p.Gly374=) rs772617747 0.00003
NM_170665.4(ATP2A2):c.*3837C>T rs769621334 0.00002
NM_170665.4(ATP2A2):c.-34G>A rs1031056434 0.00002
NM_170665.4(ATP2A2):c.1912A>G (p.Ile638Val) rs199966458 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.136+11C>T rs769052817 0.00001
NM_170665.4(ATP2A2):c.1878C>T (p.Asp626=) rs375770050 0.00001
NM_170665.4(ATP2A2):c.2059G>A (p.Val687Ile) rs773326317 0.00001
NM_170665.4(ATP2A2):c.2742-6C>T rs201579013 0.00001
NM_170665.4(ATP2A2):c.2859+11G>A rs914920127 0.00001
NM_170665.4(ATP2A2):c.303T>C (p.Asn101=) rs886048950 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.-161G>A
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.1006_1010delinsTTCCAAGG (p.Leu336_Pro337delinsPheGlnGly)
NM_170665.4(ATP2A2):c.1010del (p.Pro337fs) rs2548553879
NM_170665.4(ATP2A2):c.1013C>T (p.Ser338Phe) rs2548553884
NM_170665.4(ATP2A2):c.1060G>C (p.Gly354Arg)
NM_170665.4(ATP2A2):c.106T>G (p.Trp36Gly)
NM_170665.4(ATP2A2):c.1127C>T (p.Thr376Ile)
NM_170665.4(ATP2A2):c.1185-9T>C rs1878516127
NM_170665.4(ATP2A2):c.1287+4del
NM_170665.4(ATP2A2):c.137-13_137-12insNNNNNNNNNNNNNNNNNN rs2137673961
NM_170665.4(ATP2A2):c.1454_1455dup (p.Glu486Ter)
NM_170665.4(ATP2A2):c.1472_1473del (p.Arg491fs)
NM_170665.4(ATP2A2):c.1473A>G (p.Arg491=) rs748934047
NM_170665.4(ATP2A2):c.1655dup (p.Gly552_Ser553insTer)
NM_170665.4(ATP2A2):c.1678T>C (p.Cys560Arg) rs121912734
NM_170665.4(ATP2A2):c.170_171dup (p.Glu58fs)
NM_170665.4(ATP2A2):c.1804C>G (p.Pro602Ala) rs1879266169
NM_170665.4(ATP2A2):c.1858G>T (p.Val620Phe)
NM_170665.4(ATP2A2):c.2039C>T (p.Pro680Leu) rs2137856827
NM_170665.4(ATP2A2):c.2104G>A (p.Asp702Asn) rs2548563282
NM_170665.4(ATP2A2):c.2161T>C (p.Ser721Pro)
NM_170665.4(ATP2A2):c.2185G>A (p.Ala729Thr) rs886048953
NM_170665.4(ATP2A2):c.219+15del rs750221249
NM_170665.4(ATP2A2):c.220-1G>A rs1873370871
NM_170665.4(ATP2A2):c.2258ACA[2] (p.Asn755del) rs1566240208
NM_170665.4(ATP2A2):c.2300A>G (p.Asn767Ser) rs121912732
NM_170665.4(ATP2A2):c.2315_2318delTCTG (p.Cys773fs)
NM_170665.4(ATP2A2):c.2318+2T>C
NM_170665.4(ATP2A2):c.2381T>A (p.Val794Asp) rs1592864859
NM_170665.4(ATP2A2):c.2521+4A>C rs191745868
NM_170665.4(ATP2A2):c.2607+3A>T rs2548565275
NM_170665.4(ATP2A2):c.269A>T (p.Glu90Val)
NM_170665.4(ATP2A2):c.2741_2741+1delinsAA
NM_170665.4(ATP2A2):c.2860-10TG[2] rs372303998
NM_170665.4(ATP2A2):c.2925C>T (p.Pro975=) rs147558863
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+10A>G rs886048951
NM_170665.4(ATP2A2):c.544+1G>A rs1592839705
NM_170665.4(ATP2A2):c.545-14C>T rs1566228584
NM_170665.4(ATP2A2):c.545-3T>G
NM_170665.4(ATP2A2):c.555C>G (p.Val185=) rs886048952
NM_170665.4(ATP2A2):c.583C>G (p.Pro195Ala) rs1877810444
NM_170665.4(ATP2A2):c.689_692del (p.Thr230fs)
NM_170665.4(ATP2A2):c.68G>A (p.Gly23Glu) rs28929478
NM_170665.4(ATP2A2):c.712G>T (p.Glu238Ter)
NM_170665.4(ATP2A2):c.912dup (p.Ala305fs)
NM_170665.4(ATP2A2):c.943A>T (p.Ile315Phe)

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