ClinVar Miner

List of variants reported as likely pathogenic for Multiple sulfatase deficiency by Invitae

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_182760.4(SUMF1):c.670C>T (p.Arg224Trp) rs759888604 0.00002
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.955-1G>T rs1247498705 0.00001
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.(?_4494540)_(4494753_?)del
NC_000003.12:g.(?_4410855)_(4420156_?)del
NC_000003.12:g.(?_4452866)_(4453059_?)del
NM_182760.4(SUMF1):c.1040del (p.Ala347fs) rs2125176154
NM_182760.4(SUMF1):c.25_270+3del rs1575266004
NM_182760.4(SUMF1):c.271-1G>C
NM_182760.4(SUMF1):c.271-1del
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.451A>G (p.Lys151Glu) rs2125124343
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.840+1G>A
NM_182760.4(SUMF1):c.841-2A>T rs1487159473
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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