ClinVar Miner

List of variants studied for Multiple sulfatase deficiency by Pars Genome Lab

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_182760.4(SUMF1):c.602+50G>A rs711666 0.90409
NM_182760.4(SUMF1):c.841-75C>T rs813811 0.66935
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852 0.66322
NM_182760.4(SUMF1):c.*61T>C rs2819561 0.60822
NM_182760.4(SUMF1):c.188G>A (p.Ser63Asn) rs2819590 0.20761
NM_182760.4(SUMF1):c.445-102T>C rs17040706 0.08470
NM_182760.4(SUMF1):c.*7A>G rs2125175681

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