ClinVar Miner

List of variants in gene SUMF1 reported as likely pathogenic for Multiple sulfatase deficiency

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Gene type:
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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_182760.4(SUMF1):c.776A>T (p.Asn259Ile) rs764215221 0.00011
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850 0.00009
NM_182760.4(SUMF1):c.602+1G>A rs143616931 0.00004
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846 0.00001
NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln) rs137852847 0.00001
NM_182760.4(SUMF1):c.445-1G>A rs1237016251 0.00001
NM_182760.4(SUMF1):c.445-2A>G rs1293658639 0.00001
NM_182760.4(SUMF1):c.653G>A (p.Cys218Tyr) rs137852854 0.00001
NM_182760.4(SUMF1):c.818A>G (p.Asp273Gly) rs772711848 0.00001
NM_182760.4(SUMF1):c.890A>C (p.Asn297Thr) rs749715515 0.00001
NM_182760.4(SUMF1):c.955-1G>T rs1247498705 0.00001
NC_000003.11:g.(?_4452529)_(4461850_?)dup
NC_000003.11:g.(?_4452529)_(4494753_?)del
NC_000003.11:g.(?_4490930)_(4494753_?)del
NC_000003.11:g.(?_4490940)_(4494743_?)del
NC_000003.11:g.(?_4508657)_(4508905_?)del
NC_000003.12:g.(?_4410855)_(4420156_?)del
NC_000003.12:g.(?_4452866)_(4453059_?)del
NM_182760.4(SUMF1):c.-12_5dup (p.Ala3fs)
NM_182760.4(SUMF1):c.1040del (p.Ala347fs) rs2125176154
NM_182760.4(SUMF1):c.1042G>T (p.Ala348Ser)
NM_182760.4(SUMF1):c.1A>G (p.Met1Val) rs137852855
NM_182760.4(SUMF1):c.271-1G>C
NM_182760.4(SUMF1):c.271-1del
NM_182760.4(SUMF1):c.271-4_271-2delinsTTT
NM_182760.4(SUMF1):c.279del (p.Ile94fs) rs2125134167
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.392T>G (p.Val131Gly) rs1703021709
NM_182760.4(SUMF1):c.416T>G (p.Phe139Cys) rs746433657
NM_182760.4(SUMF1):c.451A>G (p.Lys151Glu) rs2125124343
NM_182760.4(SUMF1):c.464C>T (p.Ser155Phe) rs1702889459
NM_182760.4(SUMF1):c.511C>T (p.Gln171Ter) rs1702887095
NM_182760.4(SUMF1):c.520-1G>C
NM_182760.4(SUMF1):c.536G>C (p.Trp179Ser)
NM_182760.4(SUMF1):c.563G>A (p.Trp188Ter)
NM_182760.4(SUMF1):c.603-1G>T
NM_182760.4(SUMF1):c.689A>G (p.Glu230Gly)
NM_182760.4(SUMF1):c.726-1G>A rs1215549413
NM_182760.4(SUMF1):c.726-1G>C rs1215549413
NM_182760.4(SUMF1):c.726-1_726del rs1575196325
NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg) rs1057517363
NM_182760.4(SUMF1):c.778_779delinsCTTGCTCATACTCGCC (p.Ile260fs)
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg) rs1064793391
NM_182760.4(SUMF1):c.817G>A (p.Asp273Asn)
NM_182760.4(SUMF1):c.832del (p.Thr278fs)
NM_182760.4(SUMF1):c.840+1G>A
NM_182760.4(SUMF1):c.841-2A>T rs1487159473
NM_182760.4(SUMF1):c.860A>T (p.Asn287Ile) rs766298096
NM_182760.4(SUMF1):c.868G>C (p.Gly290Arg)
NM_182760.4(SUMF1):c.896G>A (p.Trp299Ter) rs1559281733
NM_182760.4(SUMF1):c.914G>A (p.Trp305Ter)
NM_182760.4(SUMF1):c.940G>T (p.Glu314Ter)
NM_182760.4(SUMF1):c.954+1G>A rs1701516867
NM_182760.4(SUMF1):c.954+1G>T rs1701516867
NM_182760.4(SUMF1):c.955-2A>G
NM_182760.4(SUMF1):c.955-3_970del

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