ClinVar Miner

List of variants in gene SUMF1 reported as likely benign for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP
NM_182760.4(SUMF1):c.*396C>G
NM_182760.4(SUMF1):c.*445A>G rs114640216
NM_182760.4(SUMF1):c.*7A>G
NM_182760.4(SUMF1):c.*836C>G rs140229372
NM_182760.4(SUMF1):c.*949G>A rs575414528
NM_182760.4(SUMF1):c.1002C>T (p.Tyr334=)
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.102C>T (p.Ser34=)
NM_182760.4(SUMF1):c.1065T>C (p.Asp355=)
NM_182760.4(SUMF1):c.1077G>A (p.Ser359=) rs140751492
NM_182760.4(SUMF1):c.1083G>C (p.Leu361=)
NM_182760.4(SUMF1):c.1107C>T (p.Arg369=)
NM_182760.4(SUMF1):c.117C>T (p.Thr39=)
NM_182760.4(SUMF1):c.129G>C (p.Ala43=) rs1235708576
NM_182760.4(SUMF1):c.12C>T (p.Pro4=)
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.180C>T (p.Ala60=)
NM_182760.4(SUMF1):c.183T>C (p.His61=)
NM_182760.4(SUMF1):c.18A>G (p.Leu6=)
NM_182760.4(SUMF1):c.192G>C (p.Ser64=)
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.258C>A (p.Leu86=)
NM_182760.4(SUMF1):c.270+10C>G
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.324A>T (p.Ile108=)
NM_182760.4(SUMF1):c.348G>A (p.Ala116=)
NM_182760.4(SUMF1):c.369C>A (p.Ala123=)
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.444+10T>C
NM_182760.4(SUMF1):c.445-102T>C
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.45G>A (p.Glu15=)
NM_182760.4(SUMF1):c.484T>C (p.Leu162=)
NM_182760.4(SUMF1):c.48G>C (p.Leu16=)
NM_182760.4(SUMF1):c.510T>C (p.Ile170=)
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.570C>T (p.His190=)
NM_182760.4(SUMF1):c.602+10G>T
NM_182760.4(SUMF1):c.602+7C>G
NM_182760.4(SUMF1):c.603-5C>T
NM_182760.4(SUMF1):c.603-9C>T
NM_182760.4(SUMF1):c.621C>T (p.Leu207=)
NM_182760.4(SUMF1):c.624T>C (p.His208=)
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.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.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.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.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.825C>T (p.Phe275=) rs780668525
NM_182760.4(SUMF1):c.837G>A (p.Ala279=) rs150925824
NM_182760.4(SUMF1):c.841-6T>C
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.891C>T (p.Asn297=) rs143754187
NM_182760.4(SUMF1):c.966T>C (p.Pro322=)
NM_182760.4(SUMF1):c.999C>G (p.Ser333=)
NM_182760.4(SUMF1):c.9G>A (p.Ala3=) rs755989487

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