ClinVar Miner

List of variants studied for Multiple sulfatase deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233 0.00180
NM_182760.4(SUMF1):c.212C>T (p.Ser71Leu) rs375739887 0.00038
NM_182760.4(SUMF1):c.875A>G (p.Tyr292Cys) rs148841895 0.00014
NM_182760.4(SUMF1):c.233G>A (p.Gly78Asp) rs753398300 0.00004
NM_182760.4(SUMF1):c.1033C>T (p.Arg345Cys) rs137852852 0.00001
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846 0.00001
NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter) rs137852845 0.00001
NM_182760.4(SUMF1):c.2T>G (p.Met1Arg) rs137852851

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