ClinVar Miner

List of variants reported as benign for Multiple sulfatase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_182760.4(SUMF1):c.*471T>G rs2259818 0.97410
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852 0.66322
NM_182760.4(SUMF1):c.*675A>C rs14275 0.61157
NM_182760.4(SUMF1):c.*61T>C rs2819561 0.60822
NM_182760.4(SUMF1):c.*10A>G rs35083095 0.42363
NM_182760.4(SUMF1):c.*291G>A rs4685744 0.42078
NM_182760.4(SUMF1):c.*214A>G rs2819562 0.39192
NM_182760.4(SUMF1):c.188G>A (p.Ser63Asn) rs2819590 0.20761
NM_182760.4(SUMF1):c.*292T>A rs74979662 0.03368
NM_182760.4(SUMF1):c.*552T>G rs10514655 0.03190
NM_182760.4(SUMF1):c.*518T>C rs17040504 0.02173
NM_182760.4(SUMF1):c.602+13C>T rs80204284 0.01808
NM_182760.4(SUMF1):c.*805C>T rs79031951 0.01466
NM_182760.4(SUMF1):c.*917G>T rs116661242 0.01035
NM_182760.4(SUMF1):c.*189G>A rs116820538 0.00972
NM_182760.4(SUMF1):c.*92A>G rs150796088 0.00972
NM_182760.4(SUMF1):c.-9C>T rs148200251 0.00803
NM_182760.4(SUMF1):c.*210C>T rs115376966 0.00791
NM_182760.4(SUMF1):c.841-14G>A rs9852367 0.00720
NM_182760.4(SUMF1):c.*398C>T rs116909525 0.00111
NM_182760.4(SUMF1):c.*11A>T rs2633851
NM_182760.4(SUMF1):c.*460_*463del rs71873849
NM_182760.4(SUMF1):c.*568G>A rs73022033
NM_182760.4(SUMF1):c.95C>T (p.Ala32Val) rs374677940

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