ClinVar Miner

List of variants in gene SUMF1 reported as uncertain significance for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP
NM_001164674.1(SUMF1):c.-25C>G rs780263159
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.*218T>C rs532640038
NM_182760.4(SUMF1):c.*279C>T
NM_182760.4(SUMF1):c.*297C>T
NM_182760.4(SUMF1):c.*305C>G
NM_182760.4(SUMF1):c.*463G>T
NM_182760.4(SUMF1):c.*496del rs886058516
NM_182760.4(SUMF1):c.*548T>C rs185598903
NM_182760.4(SUMF1):c.*568G>C
NM_182760.4(SUMF1):c.*578C>G rs886058515
NM_182760.4(SUMF1):c.*639T>C rs886058514
NM_182760.4(SUMF1):c.*67A>T
NM_182760.4(SUMF1):c.*692A>G rs886058513
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.*874C>T rs145484019
NM_182760.4(SUMF1):c.*948C>G
NM_182760.4(SUMF1):c.*948C>T
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.1014+12C>T
NM_182760.4(SUMF1):c.1015-8C>T rs886058517
NM_182760.4(SUMF1):c.1091G>A (p.Arg364His)
NM_182760.4(SUMF1):c.13G>A (p.Ala5Thr)
NM_182760.4(SUMF1):c.140C>G (p.Ala47Gly) rs779961693
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.211T>C (p.Ser71Pro) rs201984297
NM_182760.4(SUMF1):c.237C>G (p.Pro79=) rs11555132
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu)
NM_182760.4(SUMF1):c.251G>A (p.Arg84Gln) rs762094231
NM_182760.4(SUMF1):c.263A>C (p.His88Pro) rs768876680
NM_182760.4(SUMF1):c.271-7A>G rs371283922
NM_182760.4(SUMF1):c.306C>T (p.Gly102=)
NM_182760.4(SUMF1):c.30T>C (p.Cys10=)
NM_182760.4(SUMF1):c.362T>C (p.Ile121Thr)
NM_182760.4(SUMF1):c.434A>G (p.Tyr145Cys) rs886058520
NM_182760.4(SUMF1):c.444+4A>C
NM_182760.4(SUMF1):c.447T>C (p.Ala149=)
NM_182760.4(SUMF1):c.45G>A (p.Glu15=)
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.491A>T (p.Glu164Val) rs886058519
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361
NM_182760.4(SUMF1):c.571C>A (p.Pro191Thr)
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe) rs200142963
NM_182760.4(SUMF1):c.602+10G>T
NM_182760.4(SUMF1):c.602+12C>T rs200971871
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829
NM_182760.4(SUMF1):c.626T>C (p.Val209Ala)
NM_182760.4(SUMF1):c.627G>C (p.Val209=) rs748118171
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233
NM_182760.4(SUMF1):c.715C>T (p.Leu239=) rs779864102
NM_182760.4(SUMF1):c.726-14G>T
NM_182760.4(SUMF1):c.77C>T (p.Ser26Leu) rs759963054
NM_182760.4(SUMF1):c.802A>G (p.Thr268Ala)
NM_182760.4(SUMF1):c.803C>T (p.Thr268Ile)
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
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.955-6C>G rs886058518

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