ClinVar Miner

List of variants in gene SUMF1 studied for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 244
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HGVS dbSNP
NC_000003.11:g.(?_4403818)_(4459826_?)del
NC_000003.11:g.(?_4403818)_(4494743_?)del
NC_000003.11:g.(?_4490940)_(4494743_?)del
NC_000003.11:g.(?_4508657_4508905del
NC_000003.12:g.(?_4362124)_(4467265_?)del
NC_000003.12:g.(?_4362134)_(4362264_?)del
NC_000003.12:g.(?_4362134)_(4376399_?)del
NC_000003.12:g.(?_4410855)_(4420156_?)del
NC_000003.12:g.(?_4410855)_(4467255_?)del
NC_000003.12:g.(?_4449256)_(4467255_?)del
NC_000003.12:g.(?_4452866)_(4453059_?)del
NC_000003.12:g.(?_4452866)_(4467255_?)del
NM_001164674.1(SUMF1):c.-25C>G rs780263159
NM_182760.4(SUMF1):c.*10A>G rs35083095
NM_182760.4(SUMF1):c.*11A>T rs2633851
NM_182760.4(SUMF1):c.*140C>T
NM_182760.4(SUMF1):c.*150G>A
NM_182760.4(SUMF1):c.*152C>G rs560350613
NM_182760.4(SUMF1):c.*189G>A
NM_182760.4(SUMF1):c.*210C>T
NM_182760.4(SUMF1):c.*214A>G rs2819562
NM_182760.4(SUMF1):c.*218T>C rs532640038
NM_182760.4(SUMF1):c.*279C>T
NM_182760.4(SUMF1):c.*291G>A rs4685744
NM_182760.4(SUMF1):c.*292T>A rs74979662
NM_182760.4(SUMF1):c.*297C>T
NM_182760.4(SUMF1):c.*305C>G
NM_182760.4(SUMF1):c.*396C>G
NM_182760.4(SUMF1):c.*398C>T rs116909525
NM_182760.4(SUMF1):c.*445A>G rs114640216
NM_182760.4(SUMF1):c.*460_*463del rs71873849
NM_182760.4(SUMF1):c.*463G>T
NM_182760.4(SUMF1):c.*471T>G rs2259818
NM_182760.4(SUMF1):c.*496del rs886058516
NM_182760.4(SUMF1):c.*518T>C rs17040504
NM_182760.4(SUMF1):c.*548T>C rs185598903
NM_182760.4(SUMF1):c.*552T>G rs10514655
NM_182760.4(SUMF1):c.*568G>A rs73022033
NM_182760.4(SUMF1):c.*568G>C
NM_182760.4(SUMF1):c.*578C>G rs886058515
NM_182760.4(SUMF1):c.*61T>C rs2819561
NM_182760.4(SUMF1):c.*639T>C rs886058514
NM_182760.4(SUMF1):c.*675A>C rs14275
NM_182760.4(SUMF1):c.*67A>T
NM_182760.4(SUMF1):c.*692A>G rs886058513
NM_182760.4(SUMF1):c.*7A>G
NM_182760.4(SUMF1):c.*805C>T rs79031951
NM_182760.4(SUMF1):c.*809C>T rs886058512
NM_182760.4(SUMF1):c.*819G>A rs886058511
NM_182760.4(SUMF1):c.*820C>T
NM_182760.4(SUMF1):c.*821G>A
NM_182760.4(SUMF1):c.*828G>A
NM_182760.4(SUMF1):c.*836C>G rs140229372
NM_182760.4(SUMF1):c.*874C>T rs145484019
NM_182760.4(SUMF1):c.*917G>T rs116661242
NM_182760.4(SUMF1):c.*92A>G
NM_182760.4(SUMF1):c.*948C>G
NM_182760.4(SUMF1):c.*948C>T
NM_182760.4(SUMF1):c.*949G>A rs575414528
NM_182760.4(SUMF1):c.*953C>T
NM_182760.4(SUMF1):c.*95C>T
NM_182760.4(SUMF1):c.*976A>G rs886058510
NM_182760.4(SUMF1):c.*982G>A
NM_182760.4(SUMF1):c.-9C>T rs148200251
NM_182760.4(SUMF1):c.1002C>T (p.Tyr334=)
NM_182760.4(SUMF1):c.1006T>C (p.Cys336Arg) rs137852848
NM_182760.4(SUMF1):c.1014+12C>T
NM_182760.4(SUMF1):c.1014+7C>T
NM_182760.4(SUMF1):c.1014+9T>C
NM_182760.4(SUMF1):c.1015-10C>G
NM_182760.4(SUMF1):c.1015-10C>T
NM_182760.4(SUMF1):c.1015-3_1015-2del
NM_182760.4(SUMF1):c.1015-4A>G
NM_182760.4(SUMF1):c.1015-5C>T
NM_182760.4(SUMF1):c.1015-8C>T rs886058517
NM_182760.4(SUMF1):c.102C>T (p.Ser34=)
NM_182760.4(SUMF1):c.1033C>T (p.Arg345Cys) rs137852852
NM_182760.4(SUMF1):c.1040del (p.Ala347fs)
NM_182760.4(SUMF1):c.1042G>C (p.Ala348Pro) rs137852853
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846
NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln) rs137852847
NM_182760.4(SUMF1):c.1065T>C (p.Asp355=)
NM_182760.4(SUMF1):c.1076C>A (p.Ser359Ter) rs137852844
NM_182760.4(SUMF1):c.1077G>A (p.Ser359=) rs140751492
NM_182760.4(SUMF1):c.1083G>C (p.Leu361=)
NM_182760.4(SUMF1):c.1091G>A (p.Arg364His)
NM_182760.4(SUMF1):c.1107C>T (p.Arg369=)
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852
NM_182760.4(SUMF1):c.117C>T (p.Thr39=)
NM_182760.4(SUMF1):c.128C>T (p.Ala43Val) rs200789939
NM_182760.4(SUMF1):c.129G>C (p.Ala43=) rs1235708576
NM_182760.4(SUMF1):c.12C>T (p.Pro4=)
NM_182760.4(SUMF1):c.13G>A (p.Ala5Thr)
NM_182760.4(SUMF1):c.140C>G (p.Ala47Gly) rs779961693
NM_182760.4(SUMF1):c.147T>C (p.Ser49=)
NM_182760.4(SUMF1):c.168G>A (p.Gln56=) rs1575266526
NM_182760.4(SUMF1):c.16C>T (p.Leu6=) rs774160105
NM_182760.4(SUMF1):c.177C>T (p.Gly59=) rs774739457
NM_182760.4(SUMF1):c.179C>T (p.Ala60Val) rs886058521
NM_182760.4(SUMF1):c.180C>T (p.Ala60=)
NM_182760.4(SUMF1):c.183T>C (p.His61=)
NM_182760.4(SUMF1):c.188G>A (p.Ser63Asn) rs2819590
NM_182760.4(SUMF1):c.18A>G (p.Leu6=)
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter)
NM_182760.4(SUMF1):c.191del (p.Ser64fs)
NM_182760.4(SUMF1):c.192G>C (p.Ser64=)
NM_182760.4(SUMF1):c.1A>G (p.Met1Val) rs137852855
NM_182760.4(SUMF1):c.210C>T (p.Tyr70=)
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro) rs201984297
NM_182760.4(SUMF1):c.216G>A (p.Arg72=)
NM_182760.4(SUMF1):c.234C>A (p.Gly78=) rs763565087
NM_182760.4(SUMF1):c.237C>G (p.Pro79=) rs11555132
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu)
NM_182760.4(SUMF1):c.243C>G (p.Pro81=)
NM_182760.4(SUMF1):c.244G>T (p.Gly82Ter) rs986500427
NM_182760.4(SUMF1):c.251G>A (p.Arg84Gln) rs762094231
NM_182760.4(SUMF1):c.258C>A (p.Leu86=)
NM_182760.4(SUMF1):c.25_270+3del rs1575266004
NM_182760.4(SUMF1):c.263A>C (p.His88Pro) rs768876680
NM_182760.4(SUMF1):c.266C>G (p.Ser89Ter) rs1575266034
NM_182760.4(SUMF1):c.266del (p.His88_Ser89insTer)
NM_182760.4(SUMF1):c.270+10C>G
NM_182760.4(SUMF1):c.270+1del
NM_182760.4(SUMF1):c.271-7A>G rs371283922
NM_182760.4(SUMF1):c.276C>A (p.Val92=)
NM_182760.4(SUMF1):c.28T>C (p.Cys10Arg)
NM_182760.4(SUMF1):c.2T>G (p.Met1Arg) rs137852851
NM_182760.4(SUMF1):c.306C>T (p.Gly102=)
NM_182760.4(SUMF1):c.30T>C (p.Cys10=)
NM_182760.4(SUMF1):c.324A>T (p.Ile108=)
NM_182760.4(SUMF1):c.337G>A (p.Glu113Lys) rs1085307107
NM_182760.4(SUMF1):c.339dup (p.Ala114fs)
NM_182760.4(SUMF1):c.348G>A (p.Ala116=)
NM_182760.4(SUMF1):c.362T>C (p.Ile121Thr)
NM_182760.4(SUMF1):c.369C>A (p.Ala123=)
NM_182760.4(SUMF1):c.392T>G (p.Val131Gly)
NM_182760.4(SUMF1):c.405A>G (p.Glu135=)
NM_182760.4(SUMF1):c.426A>C (p.Ser142=)
NM_182760.4(SUMF1):c.432C>T (p.Gly144=)
NM_182760.4(SUMF1):c.434A>G (p.Tyr145Cys) rs886058520
NM_182760.4(SUMF1):c.43G>T (p.Glu15Ter)
NM_182760.4(SUMF1):c.444+10T>C
NM_182760.4(SUMF1):c.444+4A>C
NM_182760.4(SUMF1):c.445-102T>C
NM_182760.4(SUMF1):c.445-1G>A
NM_182760.4(SUMF1):c.445-8C>T
NM_182760.4(SUMF1):c.447T>C (p.Ala149=)
NM_182760.4(SUMF1):c.450G>A (p.Glu150=)
NM_182760.4(SUMF1):c.451A>T (p.Lys151Ter)
NM_182760.4(SUMF1):c.45G>A (p.Glu15=)
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850
NM_182760.4(SUMF1):c.464C>G (p.Ser155Cys)
NM_182760.4(SUMF1):c.482T>C (p.Met161Thr)
NM_182760.4(SUMF1):c.483G>T (p.Met161Ile)
NM_182760.4(SUMF1):c.484T>C (p.Leu162=)
NM_182760.4(SUMF1):c.48G>C (p.Leu16=)
NM_182760.4(SUMF1):c.491A>T (p.Glu164Val) rs886058519
NM_182760.4(SUMF1):c.510T>C (p.Ile170=)
NM_182760.4(SUMF1):c.511C>T (p.Gln171Ter)
NM_182760.4(SUMF1):c.519+5_519+8del rs775324176
NM_182760.4(SUMF1):c.519+7A>T
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361
NM_182760.4(SUMF1):c.525A>G (p.Ala175=)
NM_182760.4(SUMF1):c.528T>C (p.Ala176=) rs138269123
NM_182760.4(SUMF1):c.542T>G (p.Leu181Ter) rs1553575867
NM_182760.4(SUMF1):c.570C>T (p.His190=)
NM_182760.4(SUMF1):c.571C>A (p.Pro191Thr)
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe) rs200142963
NM_182760.4(SUMF1):c.59T>G (p.Leu20Arg) rs79985808
NM_182760.4(SUMF1):c.602+10G>T
NM_182760.4(SUMF1):c.602+12C>T rs200971871
NM_182760.4(SUMF1):c.602+13C>T rs80204284
NM_182760.4(SUMF1):c.602+1G>A
NM_182760.4(SUMF1):c.602+50G>A rs711666
NM_182760.4(SUMF1):c.602+7C>G
NM_182760.4(SUMF1):c.603-1G>C
NM_182760.4(SUMF1):c.603-5C>T
NM_182760.4(SUMF1):c.603-9C>T
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829
NM_182760.4(SUMF1):c.621C>T (p.Leu207=)
NM_182760.4(SUMF1):c.624T>C (p.His208=)
NM_182760.4(SUMF1):c.626T>C (p.Val209Ala)
NM_182760.4(SUMF1):c.627G>A (p.Val209=)
NM_182760.4(SUMF1):c.627G>C (p.Val209=) rs748118171
NM_182760.4(SUMF1):c.630C>T (p.Ser210=)
NM_182760.4(SUMF1):c.642G>A (p.Ala214=) rs141017221
NM_182760.4(SUMF1):c.648C>G (p.Ala216=) rs1470203634
NM_182760.4(SUMF1):c.653G>A (p.Cys218Tyr) rs137852854
NM_182760.4(SUMF1):c.659G>A (p.Trp220Ter) rs1575197564
NM_182760.4(SUMF1):c.661del (p.Ala221fs) rs770241913
NM_182760.4(SUMF1):c.663A>C (p.Ala221=)
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233
NM_182760.4(SUMF1):c.675G>A (p.Leu225=)
NM_182760.4(SUMF1):c.675G>T (p.Leu225=)
NM_182760.4(SUMF1):c.681G>A (p.Thr227=)
NM_182760.4(SUMF1):c.684A>G (p.Glu228=)
NM_182760.4(SUMF1):c.691dup (p.Trp231fs)
NM_182760.4(SUMF1):c.715C>T (p.Leu239=) rs779864102
NM_182760.4(SUMF1):c.722A>G (p.Asn241Ser) rs138045351
NM_182760.4(SUMF1):c.726-10C>T
NM_182760.4(SUMF1):c.726-14G>T
NM_182760.4(SUMF1):c.726-1G>A
NM_182760.4(SUMF1):c.726-1G>C
NM_182760.4(SUMF1):c.726-1_726del rs1575196325
NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg) rs1057517363
NM_182760.4(SUMF1):c.748C>T (p.Leu250=)
NM_182760.4(SUMF1):c.750G>A (p.Leu250=)
NM_182760.4(SUMF1):c.75C>T (p.Leu25=)
NM_182760.4(SUMF1):c.762C>A (p.Gly254=)
NM_182760.4(SUMF1):c.765G>A (p.Gln255=)
NM_182760.4(SUMF1):c.77C>T (p.Ser26Leu) rs759963054
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg) rs1064793391
NM_182760.4(SUMF1):c.788G>T (p.Gly263Val) rs387906976
NM_182760.4(SUMF1):c.78G>A (p.Ser26=)
NM_182760.4(SUMF1):c.798G>A (p.Pro266=)
NM_182760.4(SUMF1):c.801G>C (p.Val267=)
NM_182760.4(SUMF1):c.801G>T (p.Val267=)
NM_182760.4(SUMF1):c.802A>G (p.Thr268Ala)
NM_182760.4(SUMF1):c.803C>T (p.Thr268Ile)
NM_182760.4(SUMF1):c.818A>G (p.Asp273Gly)
NM_182760.4(SUMF1):c.825C>T (p.Phe275=) rs780668525
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_182760.4(SUMF1):c.837G>A (p.Ala279=) rs150925824
NM_182760.4(SUMF1):c.841-14G>A rs9852367
NM_182760.4(SUMF1):c.841-6T>C
NM_182760.4(SUMF1):c.841-75C>T rs813811
NM_182760.4(SUMF1):c.843T>C (p.Val281=)
NM_182760.4(SUMF1):c.849C>T (p.Ala283=)
NM_182760.4(SUMF1):c.84G>T (p.Leu28=)
NM_182760.4(SUMF1):c.873A>G (p.Leu291=)
NM_182760.4(SUMF1):c.875A>G (p.Tyr292Cys) rs148841895
NM_182760.4(SUMF1):c.890A>C (p.Asn297Thr) rs749715515
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187
NM_182760.4(SUMF1):c.932C>T (p.Ser311Phe)
NM_182760.4(SUMF1):c.954+1G>T
NM_182760.4(SUMF1):c.954+7A>G rs560003466
NM_182760.4(SUMF1):c.955-6C>G rs886058518
NM_182760.4(SUMF1):c.95C>T (p.Ala32Val) rs374677940
NM_182760.4(SUMF1):c.966T>C (p.Pro322=)
NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter) rs137852845
NM_182760.4(SUMF1):c.999C>G (p.Ser333=)
NM_182760.4(SUMF1):c.9G>A (p.Ala3=) rs755989487
SUMF1, 1-BP DEL, 243C
SUMF1, 1-BP DEL, 276C

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