ClinVar Miner

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

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP
NC_000003.11:g.(?_4403818)_(4459826_?)del
NC_000003.11:g.(?_4403818)_(4494743_?)del
NC_000003.12:g.(?_4362124)_(4467265_?)del
NC_000003.12:g.(?_4410855)_(4467255_?)del
NC_000003.12:g.(?_4449256)_(4467255_?)del
NC_000003.12:g.(?_4452866)_(4467255_?)del
NM_182760.4(SUMF1):c.1006T>C (p.Cys336Arg) rs137852848
NM_182760.4(SUMF1):c.1033C>T (p.Arg345Cys) rs137852852
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.1076C>A (p.Ser359Ter) rs137852844
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter)
NM_182760.4(SUMF1):c.191del (p.Ser64fs)
NM_182760.4(SUMF1):c.1A>G (p.Met1Val) rs137852855
NM_182760.4(SUMF1):c.266C>G (p.Ser89Ter) rs1575266034
NM_182760.4(SUMF1):c.266del (p.His88_Ser89insTer)
NM_182760.4(SUMF1):c.2T>G (p.Met1Arg) rs137852851
NM_182760.4(SUMF1):c.337G>A (p.Glu113Lys) rs1085307107
NM_182760.4(SUMF1):c.339dup (p.Ala114fs)
NM_182760.4(SUMF1):c.43G>T (p.Glu15Ter)
NM_182760.4(SUMF1):c.451A>T (p.Lys151Ter)
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850
NM_182760.4(SUMF1):c.511C>T (p.Gln171Ter)
NM_182760.4(SUMF1):c.519+5_519+8del rs775324176
NM_182760.4(SUMF1):c.542T>G (p.Leu181Ter) rs1553575867
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.691dup (p.Trp231fs)
NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg) rs1057517363
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.836C>T (p.Ala279Val) rs137852849
NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter) rs137852845
SUMF1, 1-BP DEL, 243C
SUMF1, 1-BP DEL, 276C

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