ClinVar Miner

List of variants studied for Multiple sulfatase deficiency by Genome-Nilou Lab

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852 0.66322
NM_182760.4(SUMF1):c.*10A>G rs35083095 0.42363
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233 0.00180
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro) rs201984297 0.00085
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361 0.00042
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187 0.00031
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829 0.00016
NM_182760.4(SUMF1):c.875A>G (p.Tyr292Cys) rs148841895 0.00014
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850 0.00009
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846 0.00001
NM_182760.4(SUMF1):c.447T>C (p.Ala149=) rs750372409 0.00001
NM_182760.4(SUMF1):c.45G>A (p.Glu15=) rs1460272243 0.00001
NM_182760.4(SUMF1):c.*11A>T rs2633851
NM_182760.4(SUMF1):c.16C>T (p.Leu6=) rs774160105
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter) rs1421066733
NM_182760.4(SUMF1):c.542T>G (p.Leu181Ter) rs1553575867
NM_182760.4(SUMF1):c.691dup (p.Trp231fs) rs748337915
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg) rs1064793391
NM_182760.4(SUMF1):c.95C>T (p.Ala32Val) rs374677940

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